Author: "Pascale Schneider" - Searchworks@Jio Institute Digital Library Search Results

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1. Glucocorticoids paradoxically promote steroid resistance in B cell acute lymphoblastic leukemia through CXCR4/PLC signaling

Author: Souleymane Abdoul-Azize, Rihab Hami, Gaetan Riou, Céline Derambure, Camille Charbonnier, Jean-Pierre Vannier, Monica L. Guzman, Pascale Schneider, and Olivier Boyer
Subjects: Science
Abstract: Abstract Glucocorticoid (GC) resistance in childhood relapsed B-cell acute lymphoblastic leukemia (B-ALL) represents an important challenge. Despite decades of clinical use, the mechanisms underlying resistance remain poorly understood. Here, we report that in B-ALL, GC paradoxically induce their own resistance by activating a phospholipase C (PLC)-mediated cell survival pathway through the chemokine receptor, CXCR4. We identify PLC as aberrantly activated in GC-resistant B-ALL and its inhibition is able to induce cell death by compromising several transcriptional programs. Mechanistically, dexamethasone (Dex) provokes CXCR4 signaling, resulting in the activation of PLC-dependent Ca2+ and protein kinase C signaling pathways, which curtail anticancer activity. Treatment with a CXCR4 antagonist or a PLC inhibitor improves survival of Dex-treated NSG mice in vivo. CXCR4/PLC axis inhibition significantly reverses Dex resistance in B-ALL cell lines (in vitro and in vivo) and cells from Dex resistant ALL patients. Our study identifies how activation of the PLC signalosome in B-ALL by Dex limits the upfront efficacy of this chemotherapeutic agent.
Published: 2024
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2. A software tool to support follow-up care in a French childhood cancer cohort: construction and feasibility

Author: Charlotte Demoor-Goldschmidt, Pascal Veillon, Maxime Esvan, Mathilde Leonard, Sophie Chauvet, Amandine Bertrand, Liana Carausu, Fanny Delehaye, Julien Lejeune, Jérémie Rouger, Pascale Schneider, Caroline Thomas, Frédéric Millot, Line Claude, Julie Leseur, Fernand Missohou, Stéphane Supiot, Nathalie Bihannic, Isabelle Debroise, Carole Jeanneaud, Esther Lebreton, Marianne Roumy, Les Aguerris, Jean-Marie Chrétien, Virginie Gandemer, and Isabelle Pellier
Subjects: Database, Medical tool, Personalized survivorship care plan, Childhood cancer, Adolescent cancer, Survivorship, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: Background Treatment summaries and a personalized survivorship care plans based on internationally approved, organ-specific follow-up care recommendations are essential in preserving the health and quality of life for cancer survivors. Cohorts made up of survivors of childhood cancer have made significant contributions to the understanding of early mortality, somatic late complications, and psychosocial outcomes among former patients. New treatment protocols are needed to enhance survival and reduce the potential risk and severity of late effects, and working with treatment databases is crucial in doing so. Construction and content In the GOCE (Grand Ouest Cancer de l’Enfant [Western Region Childhood Cancer]) network, in a participative approach, we developed the LOG-after medical tool, on which health data are registered and can be extracted for analysis. Its name emphasizes the tool’s goal, referring to ‘logiciel’ (the French word for software) that focuses on the period “after” the acute phase. This tool is hosted on a certified health data server. Several interfaces have been developed that can be used depending on the user’s profile. Here we present this innovative co-constructed tool that takes national aspects into account, including the results of the feasibility/satisfaction study and its perspective. Utility and discussion The database contains data relating to 2558 patients, with samples from 1702 of these (66.54%) being held in a tumor bank. The average year in which treatment started was 2015 (ranging from December 1967 to November 2022: 118 patients were treated before 2012 and registered retrospectively when seen in long-term follow-up consultations or for another cancer since November 2021). A short questionnaire was distributed to healthcare professionals using the tool (physicians and research associates or technicians, n = 14), of whom 11 answered and were all satisfied. Access to the patient interface is currently open to 124 former patients. This was initially offered to 30 former patients who were over 15 years old, affected by the disease within the last 5 years, and had agreed to test it. Their opinions were collected by their doctor by e-mail, telephone, or during a consultation in an open-ended question and a non-directive interview. All patients were satisfied with the tool, with interest in testing it in the long term. Some former patients found that the tool provided them with some ease of mind; one, for instance, commented: "I feel lighter. I allow myself to forget. I know I will get a notification when the time comes." Conclusions Freely available to all users, LOG-after: (1) provides help with determining personalized survivorship care plans for follow-up; (2) builds links with general practitioners; (3) empowers the patient; and (4) enables health data to be exported for analysis. Database URL for presentation: https://youtu.be/2Ga64iausJE
Published: 2024
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3. Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial

Author: Laurène Fenwarth, Nicolas Duployez, Alice Marceau-Renaut, Wadih Abou Chahla, Stéphane Ducassou, Virginie Gandemer, Marlène Pasquet, Thierry Leblanc, Pascale Schneider, Carine Domenech, Paul Saultier, Guy Leverger, Hélène Lapillonne, Claude Preudhomme, and Arnaud Petit
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Published: 2020
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4. Excellent prognosis of late relapses of ETV6/RUNX1-positive childhood acute lymphoblastic leukemia: lessons from the FRALLE 93 protocol

Author: Virginie Gandemer, Sylvie Chevret, Arnaud Petit, Christiane Vermylen, Thierry Leblanc, Gérard Michel, Claudine Schmitt, Odile Lejars, Pascale Schneider, François Demeocq, Brigitte Bader-Meunier, Françoise Bernaudin, Yves Perel, Marie-Françoise Auclerc, Jean-Michel Cayuela, Guy Leverger, and André Baruchel
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Abstract: Background The prognosis of patients with relapses of ETV6/RUNX1-positive acute lymphoblastic leukemia remains to be evaluated, particularly with regards to the frequency of late relapses. We performed a long-term, follow-up retrospective study to address the outcome of patients with ETV6/RUNX1-positive leukemia relapses.Design and Methods Among the 713 children tested for ETV6/RUNX1 enrolled into the FRALLE 93 protocol, 43 ETV6/RUNX1-positive patients relapsed (19.4%). Most were initially stratified in the low or intermediate risk groups. The median follow-up after relapse was 54.2 months. All but three received second-line salvage therapy and 16 underwent allogeneic transplantation.Results ETV6/RUNX1 had a strong effect on overall survival after relapse (3-year survival= 64.7% for positive cases versus 46.5% for negative cases) (P=0.007). The 5-year cumulative incidence of relapse was 19.4% and testes were more frequently involved in ETV6/RUNX1-positive relapses (P=0.04). In 81.4% of cases the relapses were late, early combined or isolated extramedullary relapses. The 5-year survival rate of patients with ETV6-RUNX1-positive acute lymphoblastic leukemia relapses reached 80.8% when the relapse occurred after 36 months (versus 31.2% when the relapse occurred earlier). In univariate analysis, female gender was associated with a poor survival, whereas site of relapse, age at diagnosis, leukocytosis and consolidation strategy had no effect. In multivariate analysis, only the duration of first remission remained associated with outcome.Conclusions We found an excellent outcome for patients with ETV6/RUNX1-positive leukemia relapses that occurred more than 36 months after diagnosis. The duration of first complete remission may, therefore, be a guide to define the treatment strategy for patients with relapsed ETV6/RUNX1- positive leukemia. Key words: ETV6/RUNX1, childhood leukemia, acute lymphoblastic, prognosis, relapse.
Published: 2012
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5. Saprochaete clavata Chorioretinitis in a Post-chemotherapy Immunocompromised 9-Year-Old Child

Author: Paul Goupillou, Damien Costa, Gilles Gargala, Loic Favennec, Claire Rouzaud, Marc Muraine, Pascale Schneider, and Julie Gueudry
Subjects: Ophthalmology, Immunology and Allergy
Published: 2022
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6. Suivi au moyen-terme des patients faisant l’objet d’un traitement par CAR-T cells : recommandations de la Société francophone de greffe de moelle et de thérapie cellulaire (SFGM-TC)

Author: Tamim Alsuliman, Jean-Baptiste Mear, Aurélie Trevet, Ibrahim Yakoub-Agha, Pascale Schneider, Laurianne Drieu La Rochelle, Arnaud Campidelli, Amandine Fayard, Remy Dulery, Anne-Claire Mamez, and Céline Vicente
Subjects: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, Marketing authorization, CD19, Cell therapy, 03 medical and health sciences, Therapeutic approach, 0302 clinical medicine, hemic and lymphatic diseases, Internal medicine, Pharmacovigilance, Medicine, Radiology, Nuclear Medicine and imaging, Young adult, biology, business.industry, Hematology, General Medicine, medicine.disease, Chimeric antigen receptor, Lymphoma, 030104 developmental biology, 030220 oncology & carcinogenesis, biology.protein, business
Abstract: Chimeric antigen receptor (CAR) T cells are a new class of anti-cancer therapy that involves manipulating autologous or allogeneic T cells to express a CAR directed against a membrane antigen. In Europe, tisagenlecleucel (Kymriah™) has marketing authorization for the treatment of relapsed / refractory acute lymphoblastic leukemia (ALL) in children and young adults, in addition to the treatment of relapsed/refractory diffuse large B-cell lymphoma (DLBCL); the marketing authorization for axicabtagene ciloleucel (Yescarta™) is for the treatment of relapsed / refractory high-grade B-cell lymphoma and for the treatment of primary mediastinal B-cell lymphoma. Both cell products are genetically modified autologous T cells directed against CD19. These recommendations, drawn up by a working group of the Francophone Society of Bone Marrow transplantation and cellular Therapy (SFGM-TC) relate to the management of patients and the supply chain: medium-term complications, in particular cytopenias and B-cell aplasia, nursing and psychological supportive care. In another work, we will address long-term monitoring, post-marketing authorization pharmacovigilance and issues relating to JACIE and regulatory authorities. These recommendations are not prescriptive; their aim is to provide guidelines for the use of this new therapeutic approach. The purpose of this workshop is to outline the organizational aspects of this new therapeutic approach.
Published: 2021
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7. Real-world use of defibrotide for veno-occlusive disease/sinusoidal obstruction syndrome: the DEFIFrance Registry Study

Author: Mohamad Mohty, Didier Blaise, Régis Peffault de Latour, Myriam Labopin, Jean Henri Bourhis, Benedicte Bruno, Patrice Ceballos, Marie Detrait, Virginie Gandemer, Anne Huynh, Faezeh Izadifar-Legrand, Charlotte Jubert, Hélène Labussière-Wallet, Delphine Lebon, Sébastien Maury, Catherine Paillard, Cécile Pochon, Cecile Renard, Fanny Rialland, Pascale Schneider, Anne Sirvent, Kobby Asubonteng, Gwennaëlle Guindeuil, Ibrahim Yakoub-Agha, Jean-Hugues Dalle, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Département d'hématologie [Gustave Roussy], Institut Gustave Roussy (IGR), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Lapeyronie [Montpellier] (CHU), Service d'Hématologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe hospitalier Pellegrin, Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), CHU Amiens-Picardie, HEMATIM - Hématopoïèse et immunologie - UR UPJV 4666 (HEMATIM), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital Henri Mondor, Centre d'Investigation Clinique [CHU Clermont-Ferrand] (CIC 1405), Institut National de la Santé et de la Recherche Médicale (INSERM)-Direction de la recherche clinique et de l’innovation [CHU Clermont-Ferrand] (DRCI), CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service d'Oncologie Pédiatrique [CHRU Nancy], Service d’Hématologie [Centre Hospitalier Lyon Sud - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre hospitalier universitaire de Nantes (CHU Nantes), Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Jazz Pharmaceuticals, Inc, Jazz Pharmaceuticals [Lyon], Institute for Translational Research in Inflammation - U 1286 (INFINITE (Ex-Liric)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Robert Debré Paris, Hôpital Robert Debré, and Jazz Pharmaceuticals
Subjects: Transplantation, Haematopoietic stem cells, Hematology, Drug therapy, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) is a potentially life-threatening complication of haematopoietic cell transplantation (HCT) conditioning. The DEFIFrance post-marketing registry study evaluated effectiveness and safety in patients who received defibrotide. It collected retrospective/prospective patient data from 53 French HCT centres from July 2014 to March 2020. Primary endpoints were survival and complete response (CR; total serum bilirubin
Published: 2022
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8. Assessment of the architecture and integrity of frozen‐thawed testicular tissue from (pre)pubertal boys with cancer

Author: Florence Brugnon, Sophie Mirallié, Myriam Daudin, Aurélie Rives-Feraille, Rémi Dubois, Christophe Roux, Sandrine Giscard d'Estaing, Amélie Ancelle, Pascale Schneider, Victoria Grèze, Michael Bubenheim, Nathalie Rives, Anne Laure Barbotin, Agnès Liard, Louis Sibert, Geneviève Willson-Plat, CHU Clermont-Ferrand, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Centre d'Assistance Médicale à la Procréation [CHU Clermont-Ferrand] (AMP CECOS), CHU Estaing [Clermont-Ferrand], and CHU Clermont-Ferrand-CHU Clermont-Ferrand
Subjects: Male, endocrine system, Testicular tissue, Adolescent, [SDV]Life Sciences [q-bio], Urology, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Hematopoietic stem cell transplantation, Cryopreservation, Andrology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Neoplasms, Testis, Reproductive biology, Humans, Medicine, Prospective Studies, Fertility preservation, Child, ComputingMilieux_MISCELLANEOUS, Sertoli Cells, 030219 obstetrics & reproductive medicine, urogenital system, business.industry, Puberty, Fertility Preservation, Infant, Cancer, Seminiferous Tubules, medicine.disease, Sertoli cell, Spermatogonia, 3. Good health, Cold Temperature, Seminiferous tubule, medicine.anatomical_structure, Reproductive Medicine, Child, Preschool, 030220 oncology & carcinogenesis, France, business, General Economics, Econometrics and Finance
Abstract: BACKGROUND Testicular tissue freezing is proposed for fertility preservation to (pre)pubertal boys with cancer before highly gonadotoxic treatment. Studies accurately comparing human (pre)pubertal testicular tissue quality before freezing and after thawing are exceptional. No study has reported this approach in a systematic manner and routine care. OBJECTIVES To assess the impact of a control slow freezing protocol on testicular tissue architecture and integrity of (pre)pubertal boys after thawing. MATERIALS AND METHODS (Pre)pubertal boys (n = 87) with cancer from 8 Reproductive Biology Laboratories of the French CECOS network benefited from testicular tissue freezing before hematopoietic stem cell transplantation. Seminiferous tubule cryodamage was determined histologically by scoring morphological alterations and by quantifying intratubular spermatogonia and the expression of DNA replication and repair marker in frozen-thawed testicular fragments. RESULTS A significant increase in nuclear and epithelial score alterations was observed after thawing (p
Published: 2021
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9. Invasive Fungal Infections in Immunocompromised Children: Novel Insight Following a National Study

Author: Laura Olivier-Gougenheim, Wadih Abou-Chahla, Pascale Schneider, Damien Dupont, Sandrine Thouvenin-Doulet, Claire Desplantes, Stéphane Ducassou, Nathalie Cheikh, Claire Freycon, Benoit Brethon, Fanny Rialland, Claire Pluchart, Yves Bertrand, Alexandre Theron, Geneviève Plat, Audrey Contet, Carine Domenech, Virginie Gandemer, Catherine Paillard, Nicolas Rama, Maryline Poirée, Paul Saultier, Elodie Gouache, Guy Leverger, Jérémie Rouger-Gaudichon, Pascale Blouin, Isabelle Pellier, and Caroline Oudot
Subjects: Male, Fusariosis, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Hematopoietic stem cell transplantation, Aspergillosis, Immunocompromised Host, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Internal medicine, Epidemiology, medicine, Humans, 030212 general & internal medicine, Child, Retrospective Studies, Acute leukemia, business.industry, Incidence, Mucormycosis, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, Retrospective cohort study, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Leukemia, Myeloid, Acute, Leukemia, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, France, business, Invasive Fungal Infections
Abstract: To obtain a national overview of the epidemiology and management of invasive fungal infections (IFIs) in France for severely immunocompromised children who were treated for acute leukemia or had undergone allogeneic hematopoietic stem cell transplantation (a-HSCT).We performed a national multicenter retrospective study to collect epidemiologic data for proven and probable IFIs in children with acute leukemia under first- line or relapse treatment or who had undergone a-HSCT. We also conducted a prospective practice survey to provide a national overview of IFI management in pediatric hematology units.From January 2014 to December 2017, 144 cases of IFI were diagnosed (5.3%) in 2721 patients, including 61 cases of candidiasis, 60 cases of aspergillosis, and 23 cases of infection with "emergent" fungi, including 10 cases of mucormycosis and 6 cases of fusariosis. The IFI rate was higher in patients with acute myelogenous leukemia (12.9%) (OR, 3.24; 95% CI, 2.15-4.81; P.0001) compared with the rest of the cohort. Patients undergoing a-HSCT had an IFI rate of only 4.3%. In these patients, the use of primary antifungal prophylaxis (principally fluconazole) was associated with a lower IFI rate (OR, 0.28; 95% CI, 0.14-0.60; P = 4.90 ×10The emerging fungi and new antifungal resistance profiles uncovered in this study should be considered in IFI management in immunocompromised children.
Published: 2021
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10. Prognostic impact of RUNX1 mutations and deletions in pediatric acute myeloid leukemia: results from the French ELAM02 study group

Author: Lucille Lew-Derivry, Alice Marceau, Laurène Fenwarth, Wendy Cuccuini, Paola Ballerini, Maxime Ferreboeuf, Audrey Guilmatre, Arnaud Petit, Virginie Gandemer, Fanny Rialland, pascale schneider, Gérard Michel, yves bertrand, André Baruchel, Claude Preudhomme, Guy Leverger, and Hélène Lapillonne
Abstract: Better knowledge of genetic aberrations in pediatric acute myeloid leukemia is essential to adapt treatment intensity. RUNX1 mutations are well described in adult AML and known to be associated with a poor outcome. In children, first studies showed similar results but because of their low frequency, prognosis impact remains unclear. RUNX1 deletions have rarely been described. Among 386 children enrolled in the French ELAM02 trial, we observed 29 (8%) patients with RUNX1 abnormalities: 24 mutations and 5 deletions. We found no significant association with any clinical presentation. RUNX1 alteration was more likely associated with AML0 cytological subtype; often presented with normal karyotype but no rearrangement classified as good prognosis markers (KMT2A or CBF-AML). RUNX1 mutated patients had higher number of co-mutations, such as FLT3-ITD, EZH2 and BCOR mutations but were never associated with NPM1 or CEBPA. Five years EFS was 32.5% for RUNX1 mutated and deleted patients versus 61.4% for RUNX1 wild type (p=0.003), and OS was 33.6% versus 75.7% (p
Published: 2022
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11. Ovarian Function and Spontaneous Pregnancy After Hematopoietic Stem Cell Transplantation for Leukemia Before Puberty: An L.E.A. Cohort Study

Author: Mathilde Chabut, Pascale Schneider, Blandine Courbiere, Paul Saultier, Yves Bertrand, Marie-Dominique Tabone, Cécile Pochon, Stéphane Ducassou, Catherine Paillard, Virginie Gandemer, Justyna Kanold, Jean-Hugues Dalle, Maryline Poiree, Geneviève Plat, Sandrine Thouvenin, Dominique Plantaz, Nicolas Sirvent, Sara Weinhard, Julie Berbis, André Baruchel, Guy Leverger, Zeinab Hamidou, Pascal Auquier, and Gérard Michel
Subjects: Transplantation, Molecular Medicine, Immunology and Allergy, Cell Biology, Hematology
Published: 2023
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12. Beyond Corticoresistance, A Paradoxical Corticosensitivity Induced by Corticosteroid Therapy in Pediatric Acute Lymphoblastic Leukemias

Author: Laure Angot, Pascale Schneider, Jean-Pierre Vannier, and Souleymane Abdoul-Azize
Subjects: Cancer Research, Oncology
Abstract: Known as a key effector in relapse of acute lymphoblastic leukemia (ALL), resistance to drug-induced apoptosis, is tightly considered one of the main prognostic factors for the disease. ALL cells are constantly developing cellular strategies to survive and resist therapeutic drugs. Glucocorticoids (GCs) are one of the most important agents used in the treatment of ALL due to their ability to induce cell death. The mechanisms of GC resistance of ALL cells are largely unknown and intense research is currently focused on this topic. Such resistance can involve different cellular and molecular mechanisms, including the modulation of signaling pathways involved in the regulation of proliferation, apoptosis, autophagy, metabolism, epigenetic modifications and tumor suppressors. Recently, several studies point to the paradoxical role of GCs in many survival processes that may lead to therapy-induced resistance in ALL cells, which we called “paradoxical corticosensitivity”. In this review, we aim to summarize all findings on cell survival pathways paradoxically activated by GCs with an emphasis on previous and current knowledge on gene expression and signaling pathways.
Published: 2023
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13. Hematopoietic stem cell transplantation for acute lymphoblastic leukemia: why do adolescents and young adults outcomes differ from those of children? A retrospective study on behalf of the Francophone Society of Stem Cell Transplantation and Cellular Therapy (SFGM-TC)

Author: Audrey Grain, Fanny Rialland, Patrice Chevallier, Nicolas Blin, Jean-Hugues Dalle, Gérard Michel, Nathalie Dhédin, Régis Peffault de Latour, Cécile Pochon, Ibrahim Yakoub-Agha, Yves Bertrand, Anne Sirvent, Charlotte Jubert, Edouard Forcade, Ana Berceanu, Virginie Gandemer, Pascale Schneider, Jacques-Olivier Bay, Pierre-Simon Rohrlich, Eolia Brissot, Catherine Paillard, Dominique Plantaz, Stéphanie Nguyen Quoc, Fanny Gonzales, Natacha Maillard, Lucie Planche, Andre Baruchel, Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Robert Debré, Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Lille Inflammation Research International Center - U 995 (LIRIC), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hospices Civils de Lyon (HCL), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Pontchaillou [Rennes], Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Estaing [Clermont-Ferrand], CHU Clermont-Ferrand, Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 (CANTHER), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), and None
Subjects: MESH: Precursor Cell Lymphoblastic Leukemia-Lymphoma, MESH: Adolescent, Cancer Research, MESH: Humans, MESH: Child, Preschool, MESH: Graft vs Host Disease, Hematopoietic stem cell transplantation, MESH: Adult, MESH: Retrospective Studies, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, General Medicine, Acute lymphoblastic leukemia, Graft versus host disease, MESH: Infant, humanities, Adolescents and young adults, Oncology, MESH: Young Adult, hemic and lymphatic diseases, MESH: Child, MESH: Hematopoietic Stem Cell Transplantation
Abstract: International audience; Purpose: In the acute lymphoblastic leukemia (ALL) landscape, adolescents and young adults (AYA) often present high-risk diseases and increased chemotherapy-related toxicity. Studies analyzing the outcomes of AYA after hematopoietic stem cell transplantation (HSCT) are scarce. Our study aimed to compare the outcomes of children and AYA with ALL after HSCT and to determine the factors influencing potential differences.Method: 891 patients, from the SFGM-TC registry, aged between 1 and 25 years who received HSCT between 2005 and 2012 were included. The outcomes of AYA were compared to the ones of their younger counterparts.Results: Five-year OS and GRFS were lower in AYA: 53.1% versus 64% and 36% versus 47% (p = 0.0012 and p = 0.007, respectively). WhileCIR was similar in both groups, 5 year-treatment related mortality was higher in AYA: 19% versus 13% (p = 0.04). The lower GRFS in AYA was mainly explained by a higher chronic graft versus host disease (cGvHD) incidence: 32% versus 19% (p < 0.001). Use of peripheral blood stem cells and use of anti-thymoglobulin appeared to be the main factors impacting cGvHD occurrence in AYA.Conclusion: AYA have worse outcomes than children after HSCT for ALL because of a greater risk of TRM due to cGvHD. HSCT practices should be questioned in this population.Keywords: Acute lymphoblastic leukemia; Adolescents and young adults; Graft versus host disease; Hematopoietic stem cell transplantation.
Published: 2022
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14. Afibrinogenemia with two compound heterozygous mutations in FGA gene

Author: Alessandro Casini, Paul Billoir, Guillaume Feugray, Marguerite Neerman-Arbez, Pascale Schneider, Véronique Le Cam Duchez, Pierre Chamouni, and Virginie Barbay
Subjects: Genetics, ddc:616, Cephalhaematoma, Afibrinogenemia, business.industry, Hereditary afibrinogenemia, Bleeding, Fibrinogen, Hematology, General Medicine, Compound heterozygosity, Mutation, Medicine, Humans, ddc:576.5, business, Gene, Genetics (clinical)
Published: 2021

15. Vemurafenib for Refractory Multisystem Langerhans Cell Histiocytosis in Children: An International Observational Study

Author: Johannes Visser, Anne Lutun, Elena Sieni, Fleur Cohen, Nabil Kabbara, Olga Slater, Jean-François Emile, Mathilde Jehanne, Alina Ferster, Michael Maschan, Houda Boudiaf, Pascale Schneider, Sarah Elitzur, Nathalie Aladjidi, Milen Minkov, Ahmed Idbaih, Matthew Collin, Michal Golan, Alexandra Kolenova, François Chalard, Karel Svojgr, Jean Donadieu, Anne Pagnier, Laurence Blanc, Nicolas Simon, Jean-Claude Alvarez, Islam Amine Larabi, Fanette Bernard, James Nicholson, Mohamed Barkaoui, Anne Sonntagbauer, Anne Lambilliote, Thomas Lehrnbecher, Dmitriy Evseev, Viktoria Efremova, Geneviève Plat, Martina Ahlmann, Jean Miron, Valérie Taly, Caroline Hutter, Julien Haroche, Zofia Hélias-Rodzewicz, Paul Milne, Sébastien Héritier, Andrej Lissat, Mathilde Tardieu, Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Raymond Poincaré [AP-HP], Centre Hospitalier Universitaire [Grenoble] (CHU), Cambridge University Hospitals - NHS (CUH), University of Cambridge [UK] (CAM), Medizinische Universität Wien = Medical University of Vienna, Department Pediatric Hematology Oncology, Azienda Ospedaliero-Universitaria Meyer, Florence, Departments of Hematology, Université Paris Diderot - Paris 7 (UPD7), Groupe d'Etude des Histiocytoses (GEH), Groupe d'Etude des Histiocytoses, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Radiologie [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Newcastle University [Newcastle], Centre National de Référence du Lupus Systémique, Syndrome des Anticorps Anti-phospholipides et Maladies Auto-immunes Systémiques Rares [CHU Pitié Salpêtrière], Service de Médecine Interne 2, maladies auto-immunes et systémiques [CHU Pitié-Salpêtrière], Institut E3M [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut E3M [CHU Pitié-Salpêtrière], Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-CHU Pitié-Salpêtrière [AP-HP], Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), Centre Hospitalier Universitaire Félix-Guyon [Saint-Denis, La Réunion, France], Comenius University Children's Hospital Limbova 1 [Bratislava, Slovakia], Service Immuno Hémato-Onco Pédiatrique, CHU Grenoble, Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), CHU Toulouse [Toulouse], CHU Amiens-Picardie, Universitätsklinikum Frankfurt, Hôpital Universitaire des Enfants Reine Fabiola [Bruxelles, Belgique] (HUDERF), University Hospital [Minsk, Belarus], Universitätsklinikum Münster Klinik für Kinder [Münster, Germany], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Hôpital Jeanne de Flandre [Lille], Hôpital Mustapha [Mustapha, Algeria], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], University Hospital Motol [Prague, Czech Republic], Hôpitaux Universitaires de Genève (HUG), Schneider Children’s Medical Center of Israel [Petah Tikva], The Edmond and Lily Safra Children's Hospital [Tel-Hahsomer, Israel], Dmitriy Rogachev National Center for Pediatric Hematology, Oncology and Immunology [Moscow, Russia], Sorbonne Université - Département de neurologie 2 - Mazarin, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Great Ormond Street Hospital for Children [London] (GOSH), Sant'Anna Children's Hospital, Médecine Personnalisée, Pharmacogénomique, Optimisation Thérapeutique (MEPPOT - U1147), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute of Cellular Medicine [Newcastle], Service de Pharmacologie Toxicologie [Garches], Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Comenius University in Bratislava, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service d'Onco-neurologie = Département de neurologie 2 [CHU Pitié Salpêtrière], TALY, Valerie, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut E3M [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), and Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Male, Proto-Oncogene Proteins B-raf, Cancer Research, medicine.medical_specialty, Time Factors, Adolescent, Treatment outcome, Drug Resistance, [SDV.CAN]Life Sciences [q-bio]/Cancer, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, Langerhans cell histiocytosis, Refractory, medicine, Humans, Child, Vemurafenib, Protein Kinase Inhibitors, 030304 developmental biology, 0303 health sciences, Childhood Langerhans Cell Histiocytosis, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Age Factors, Infant, ORIGINAL REPORTS, medicine.disease, Dermatology, 3. Good health, Europe, Histiocytosis, Langerhans-Cell, Histiocytosis, Treatment Outcome, Oncology, Multicenter study, Pediatric Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Mutation, Female, Observational study, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Signal Transduction, medicine.drug
Abstract: PURPOSE Off-label use of vemurafenib (VMF) to treat BRAFV600E mutation–positive, refractory, childhood Langerhans cell histiocytosis (LCH) was evaluated. PATIENTS AND METHODS Fifty-four patients from 12 countries took VMF 20 mg/kg/d. They were classified according to risk organ involvement: liver, spleen, and/or blood cytopenia. The main evaluation criteria were adverse events (Common Terminology Criteria for Adverse Events [version 4.3]) and therapeutic responses according to Disease Activity Score. RESULTS LCH extent was distributed as follows: 44 with positive and 10 with negative risk organ involvement. Median age at diagnosis was 0.9 years (range, 0.1 to 6.5 years). Median age at VMF initiation was 1.8 years (range, 0.18 to 14 years), with a median follow-up of 22 months (range, 4.3 to 57 months), whereas median treatment duration was 13.9 months (for 855 patient-months). At 8 weeks, 38 complete responses and 16 partial responses had been achieved, with the median Disease Activity Score decreasing from 7 at diagnosis to 0 ( P < .001). Skin rash, the most frequent adverse event, affected 74% of patients. No secondary skin cancer was observed. Therapeutic plasma VMF concentrations (range, 10 to 20 mg/L) seemed to be safe and effective. VMF discontinuation for 30 patients led to 24 LCH reactivations. The blood BRAFV600E allele load, assessed as circulating cell-free DNA, decreased after starting VMF but remained positive (median, 3.6% at diagnosis, and 1.6% during VMF treatment; P < .001) and was associated with a higher risk of reactivation at VMF discontinuation. None of the various empirical therapies (hematopoietic stem-cell transplantation, cladribine and cytarabine, anti-MEK agent, vinblastine, etc) used for maintenance could eradicate the BRAFV600E clone. CONCLUSION VMF seemed safe and effective in children with refractory BRAFV600E-positive LCH. Additional studies are needed to find effective maintenance therapy approaches.
Published: 2019
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16. Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial

Author: Carine Domenech, Marlène Pasquet, Stéphane Ducassou, Arnaud Petit, Paul Saultier, Claude Preudhomme, Nicolas Duployez, Guy Leverger, Hélène Lapillonne, Alice Marceau-Renaut, Laurène Fenwarth, Thierry Leblanc, Pascale Schneider, Virginie Gandemer, Wadih Abou Chahla, Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 (CANTHER), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), CHU Lille, CHU Bordeaux [Bordeaux], CHU Pontchaillou [Rennes], CHU Toulouse [Toulouse], Service d'Hématologie Biologique [Hôpital Robert Debré, Paris], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Rouen, Normandie Université (NU), Hospices Civils de Lyon (HCL), Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), and Gestionnaire, Hal Sorbonne Université
Subjects: [SDV]Life Sciences [q-bio], Bioinformatics, Germline, 03 medical and health sciences, 0302 clinical medicine, Text mining, Medicine, Humans, Genetic Predisposition to Disease, Child, Letters to the Editor, Transcription factor, Germ-Line Mutation, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, business.industry, Pediatric acute myeloid leukemia, Hematology, 3. Good health, [SDV] Life Sciences [q-bio], Leukemia, Myeloid, Acute, Germ Cells, 030220 oncology & carcinogenesis, Disease Susceptibility, business, Transcription Factors
Abstract: International audience
Published: 2021
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17. COVID19 and acute lymphoblastic leukemias of children and adolescents: updated recommendations (Version 2) of the Leukemia Committee of the French Society for the fight against Cancers and leukemias in children and adolescents (SFCE)

Author: Jérémie Rouger-Gaudichon, Yves Bertrand, Nicolas Boissel, Benoit Brethon, Stéphane Ducassou, Virginie Gandemer, Carine Halfon-Domenech, Thierry Leblanc, Guy Leverger, Gérard Michel, Arnaud Petit, Anne-France Ray-Lunven, Pierre-Simon Rohrlich, Pascale Schneider, Nicolas Sirvent, Marion Strullu, André Baruchel, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Hospices Civils de Lyon (HCL), Hôpital Robert Debré Paris, Hôpital Robert Debré, CHU Bordeaux [Bordeaux], CHU Pontchaillou [Rennes], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Nice (CHU Nice), Service d'hémato-immuno-oncologie pédiatrique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Université de Montpellier (UM)
Subjects: Cancer Research, COVID19, MESH: Drug Interactions, MESH: Consolidation Chemotherapy, Acute lymphoblastic leukemia, Adolescents, MESH: Risk Assessment, MESH: Cancer Care Facilities, Adrenal Cortex Hormones, Recurrence, hemic and lymphatic diseases, MESH: Child, MESH: COVID-19, Drug Interactions, MESH: Adenosine Monophosphate, Child, Acute lymphoblastic leukemia-children-adolescents, Children, Societies, Medical, Alanine, Induction Chemotherapy, Hematology, General Medicine, Precursor Cell Lymphoblastic Leukemia-Lymphoma, MESH: Induction Chemotherapy, MESH: Maintenance Chemotherapy, Oncology, MESH: COVID-19 Vaccines, COVID-19 Nucleic Acid Testing, France, COVID 19, MESH: Antiviral Agents, COVID-19 Vaccines, Adolescent, MESH: Alanine, MESH: Societies, Medical, [SDV.CAN]Life Sciences [q-bio]/Cancer, Cancer Care Facilities, Antiviral Agents, Risk Assessment, MESH: COVID-19 Nucleic Acid Testing, Maintenance Chemotherapy, MESH: Adrenal Cortex Hormones, Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Humans, Radiology, Nuclear Medicine and imaging, MESH: Adolescent, MESH: Precursor Cell Lymphoblastic Leukemia-Lymphoma, MESH: Humans, SARS-CoV-2, COVID-19, Synthèse, Adenosine Monophosphate, COVID-19 Drug Treatment, MESH: Recurrence, Consolidation Chemotherapy, MESH: France, MESH: Leukemia, Myelogenous, Chronic, BCR-ABL Positive, Leucémie aiguë lymphoblastique-enfants-adolescents
Abstract: Depuis l’émergence de l’infection à SARS-CoV-2, de très nombreuses recommandations ont été émises. Cependant la nature de la maladie et la spécificité du traitement des leucémies aiguës lymphoblastiques de l’enfant et de l’adolescent ont conduit le Comité Leucémies de la Société Française de lutte contre les Cancers et leucémies de l’Enfant et de l’adolescent (SFCE) à proposer des recommandations propres. Voici la deuxième version de ces recommandations prenant en compte l’évolution des connaissances sur l’infection COVID19.
Published: 2021
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18. Improved outcome in children compared to adolescents and young adults after allogeneic hematopoietic stem cell transplant for acute myeloid leukemia: a retrospective study from the Francophone Society of Bone Marrow Transplantation and Cell Therapy (SFGM-TC)

Author: Marie Angoso, Yves Chalandon, Anne Huynh, Justyna Kanold, Thomas Remen, Cécile Pochon, Anne Sirvent, Eolia Brissot, Faezeh Izzadifar-Legrand, Yves Beguin, Edouard Forcade, Bénédicte Neven, Stéphanie Nguyen, Eliane Albuisson, Marie-Thérèse Rubio, Patrice Chevallier, Marie Balza, Mauricette Michallet, Anne-Lise Ménard, Fanny Rialland, Marie Y Detrait, Nicole Raus, Jean-Hugues Dalle, Cecile Renard, Fanny Gonzales, Catherine Paillard, Jacques-Olivier Bay, Claude Eric Bulabois, Gérard Michel, Pascale Schneider, Ibrahim Yakoub-Agha, Nathalie Dhedin, Jérôme Cornillon, Ali Bazarbachi, Service d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Service d'Hématologie [CHRU Nancy], Service d'Hématologie Biologique [Hôpital Robert Debré, Paris], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital de la Timone [CHU - APHM] (TIMONE), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpitaux Universitaires de Genève (HUG), CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Bordeaux [Bordeaux], Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Centre Léon Bérard [Lyon], Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institute for Translational Research in Inflammation - U 1286 (INFINITE (Ex-Liric)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Clermont-Ferrand, CHU Estaing [Clermont-Ferrand], Institut de Cancérologie Lucien Neuwirth, Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Centre Hospitalier Universitaire [Grenoble] (CHU), Centre d'Immunologie et des Maladies Infectieuses (CIMI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre hospitalier universitaire de Nantes (CHU Nantes), American University of Beirut [Beyrouth] (AUB), Centre Hospitalier Universitaire de Liège (CHU-Liège), Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen (CLCC Henri Becquerel), Hôpital Charles Nicolle [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU), CHU Necker - Enfants Malades [AP-HP], Hôpital de Hautepierre [Strasbourg], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Délégation à la Recherche Clinique et à l'Innovation [CHRU Nancy] (DRCI), Service d'hématologie clinique et de thérapie cellulaire [CHU Saint-Antoine], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), CHU Saint-Etienne, Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Gestionnaire, Hal Sorbonne Université, Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre d'Immunologie et de Maladies Infectieuses (CIMI), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Cancer Research, medicine.medical_specialty, Transplantation Conditioning, Adolescent, Acute myeloblastic leukemia, Graft vs Host Disease, [SDV.CAN]Life Sciences [q-bio]/Cancer, Young Adult, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, Chronic GVHD, Internal medicine, medicine, Humans, Cumulative incidence, Risk factor, Young adult, Child, Children, Bone Marrow Transplantation, Retrospective Studies, Outcome, ddc:616, Hematology, Acute GVHD, business.industry, Hematopoietic Stem Cell Transplantation, Retrospective cohort study, General Medicine, medicine.disease, Adolescent and post-adolescent patients, 3. Good health, Transplantation, Leukemia, Myeloid, Acute, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Allogeneic hematopoietic stem cell transplantation, Bone marrow, business, 030215 immunology, Young adults
Abstract: Background There are currently few data on the outcome of acute myeloid leukemia (AML) in adolescents after allogeneic HSCT. The aim of this study is to describe the outcome and its specific risk factors for children, adolescents and young adults after a first allogeneic HSCT for AML. Methods In this retrospective study, we compared the outcome of AML patients receiving a first allogeneic HSCT between 2005 and 2017 according to their age at transplantation’s time: children (n = 564), adolescent and post-adolescent (APA) patients (15–25 years, n = 647) and young adults (26–40 years; n = 1434). Results With a median follow-up of 4.37 years (min–max 0.18–14.73 years), the probability of 2-year overall survival (OS) was 71.4% in children, 61.1% in APA patients and 62.9% in young adults (p = 0.0009 for intergroup difference). Both relapse and non-relapse mortality (NRM) Cumulative Incidence (CI) estimated at 2 years were different between the age groups (30.8% for children, 35.2% for APA patients and 29.4% for young adults—p = 0.0254, and 7.0% for children, 10.6% for APA patients and 14.2% for young adults, p p Conclusion Age is an independent risk factor for NRM and extensive chronic GVHD. This study suggests that APA patients with AML could be beneficially treated with a chemotherapy-based MAC regimen and bone marrow as a stem cells source.
Published: 2021
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19. Prognostic relevance of clinical and molecular risk factors in children with high-risk medulloblastoma treated in the phase II trial PNET HR+5

Author: Christelle Dufour, Léa Guerrini-Rousseau, Julien Masliah-Planchon, Franck Bourdeaut, Pascale Schneider, Dominique Figarella-Branger, Pascal Chastagner, Emilie De Carli, Anne Geoffray, Valérie Bernier-Chastagner, Cécile Faure-Conter, Claire Berger, Céline Chappé, Natacha Entz-Werle, Laetitia Padovani, Julien Lejeune, Celine Icher, Anne-Isabelle Bertozzi, Marie-Bernadette Delisle, Pierre Leblond, Nicolas André, Christine Soler, Stéphanie Foulon, Tasnime Akbaraly, Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Anatomie Pathologique-Neuropathologique [AP-HM Hôpital La Timone], Hôpital de la Timone [CHU - APHM] (TIMONE), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Bioimagerie et Pathologies (LBP), and Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Medulloblastoma, Oncology, Cancer Research, medicine.medical_specialty, Temozolomide, business.industry, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Induction chemotherapy, [SDV.CAN]Life Sciences [q-bio]/Cancer, ThioTEPA, medicine.disease, Chemotherapy regimen, Carboplatin, Radiation therapy, chemistry.chemical_compound, chemistry, Internal medicine, medicine, Neurology (clinical), business, Survival rate, medicine.drug
Abstract: Background High-risk medulloblastoma is defined by the presence of metastatic disease and/or incomplete resection and/or unfavorable histopathology and/or tumors with MYC amplification. We aimed to assess the 3-year progression-free survival (PFS) and define the molecular characteristics associated with PFS in patients aged 5–19 years with newly diagnosed high-risk medulloblastoma treated according to the phase II trial PNET HR+5. Methods All children received postoperative induction chemotherapy (etoposide and carboplatin), followed by 2 high-dose thiotepa courses (600 mg/m2) with hematological stem cell support. At the latest 45 days after the last stem cell rescue, patients received risk-adapted craniospinal radiation therapy. Maintenance treatment with temozolomide was planned to start between 1–3 months after the end of radiotherapy. The primary endpoint was PFS. Outcome and safety analyses were per protocol (all patients who received at least one dose of induction chemotherapy). Results Fifty-one patients (median age, 8 y; range, 5–19) were enrolled. The median follow-up was 7.1 years (range: 3.4–9.0). The 3 and 5-year PFS with their 95% confidence intervals (95% CI) were 78% (65–88) and 76% (63–86), and the 3 and 5-year OS were 84% (72–92) and 76% (63–86), respectively. Medulloblastoma subtype was a statistically significant prognostic factor (P-value = 0.039) with large-cell/anaplastic being of worse prognosis, as well as a molecular subgroup (P-value = 0.012) with sonic hedgehog (SHH) and group 3 being of worse prognosis than wingless (WNT) and group 4. Therapy was well tolerated. Conclusions This treatment based on high-dose chemotherapy and conventional radiotherapy resulted in a high survival rate in children with newly diagnosed high-risk medulloblastoma.
Published: 2020
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20. X-linked Agammaglobulinemia of incidental finding

Author: Pauline Treguier, Aude Marie-Cardine, Nizar Mahlaoui, Vincent Langlois, Pascale Schneider, and Ioannis Theodorou
Subjects: biology, medicine.diagnostic_test, business.industry, X-linked agammaglobulinemia, medicine.disease, Asymptomatic, medicine.anatomical_structure, Immunology, biology.protein, medicine, Primary immunodeficiency, Bruton's tyrosine kinase, Missense mutation, Antibody, medicine.symptom, business, B cell, Genetic testing
Abstract: X-linked agammagobulinemia (XLA) is a primary immunodeficiency disorder caused by a mutation in the Bruton Tyrosine Kinase (BTK). Usually, patients present severe infections before the age of 2, and require immunoglobulin replacement therapy during all their life. We present the case of a 16-years-old male for whom the diagnosis was incidental. He did not present any infection since childhood. At the age of 4, immunoglobulin assay was performed because he had recurrent fever episodes. A panhypogammaglobulinemia was identified, but the boy became asymptomatic and explorations were stopped. At the age of 16, the patient’s parents suggested a control of the deficit which was confirmed. Genetic testing revealed a novel mutation on BTK, located in the pleckstrin homology domain [c.70A>C, p.(Asn24His)]. Initially, he received immunoglobulin substitution at the rate of one subcutaneous injection per week but stopped it after 2 years of treatment by immunoglobulin and continued to present no symptom. We thereafter report the case of an asymptomatic patient presenting a novel missense mutation of BTK. The patient doesn’t have circulant B cell. He doesn’t receive immunoglobulin substitution and doesn’t present infectious diseases.
Published: 2020
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21. Impact of COVID-19 on cancer care: A survey from the French Society of Pediatric Oncology (SFCE)

Author: Séverine Bouttefroy, Virginie Gandemer, Pascale Schneider, Elodie Gouache, Eva de Berranger, Nicolas André, Aurélia Alimi, Aurélie Phulpin, Sandrine Thouvenin, Catherine Paillard, Coralie Mallebranche, Maryline Poiree, Stéphanie Haouy, Eric Thebault, Jérémie Rouger-Gaudichon, Christophe Piguet, Yves Reguerre, Sandra Raimbault, Chrystelle Dupraz, Mathilde Dubrasquet, Benoit Brethon, Charlotte Jubert, Luisa Gariazzo, Marion Gambart, Dominique Plantaz, Catherine Devoldere, Liana Carausu, Estelle Thebaud, Laurène Fenwarth, and Véronique Laithier
Subjects: Male, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Adolescent, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), MEDLINE, Medical Oncology, Pediatrics, Neoplasms, medicine, Pediatric oncology, Humans, Pediatrics, Perinatology, and Child Health, Child, Societies, Medical, business.industry, SARS-CoV-2, Neoplasms therapy, Cancer, COVID-19, Infant, Hematology, medicine.disease, Multicenter study, Oncology, Family medicine, Child, Preschool, Pediatrics, Perinatology and Child Health, Practice Guidelines as Topic, Female, France, business, Delivery of Health Care
Published: 2020

22. Assessment of chimerism and immunomodulation to prevent post-transplantation relapse in childhood acute myeloblastic leukemia: is it the right approach?

Author: Catherine Paillard, Cécile Pochon, Gilbert Semana, Virginie Gandemer, Regis Peffault de la Tour, Séverine Drunat, Yves Bertrand, Philippe Jonveaux, Pierre Bordigoni, Claire Galambrun, Pauline Simon, Pascale Schneider, Claire Freycon, Elie Cousin, Jean-François Eliaou, Emmanuel Oger, Pierre Rohrlich, Bénédicte Bruno, Sophie Pertuisel, Jean-Hugues Dalle, and Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)
Subjects: Oncology, Male, medicine.medical_specialty, Acute myeloblastic leukemia, medicine.medical_treatment, Immunomodulation, 03 medical and health sciences, 0302 clinical medicine, Recurrence, hemic and lymphatic diseases, Internal medicine, Medicine, Humans, Prospective Studies, Child, neoplasms, ComputingMilieux_MISCELLANEOUS, Transplantation Chimera, business.industry, Hematopoietic Stem Cell Transplantation, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Hematology, Childhood Acute Myeloblastic Leukemia, Immunotherapy, medicine.disease, Allografts, Post transplant, Tissue Donors, 3. Good health, Transplantation, Haematopoiesis, Leukemia, Myeloid, Acute, surgical procedures, operative, 030220 oncology & carcinogenesis, Lymphocyte Transfusion, Pediatrics, Perinatology and Child Health, Cyclosporine, Female, business, Complication, 030215 immunology
Abstract: Relapse of acute myeloblastic leukemia (AML) after first allogenic hematopoietic stem-cell transplantation (allo-HSCT) is a fatal complication. Sixty-five children transplanted for AML were included in a prospective national study from June 2005 to July 2008 to explore the feasibility of preemptive immune modulation based on the monitoring of blood chimerism. Relapse occurred in 23 patients (35%). The median time between the last complete chimerism and relapse was 13.5 days (2-138). Prompt discontinuation of cyclosporin and the administration of donor lymphocyte infusions (DLIs) based on chimerism monitoring failed as a preemptive tool, either for detecting relapse or certifying long-term remission.
Published: 2020
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23. COVID-19 and acute lymphoblastic leukemias of children and adolescents: First recommendations of the Leukemia committee of the French Society for the fight against Cancers and Leukemias in children and adolescents (SFCE)

Author: Anne-France Ray-Lunven, Marion Strullu, Yves Bertrand, Nicolas Sirvent, André Baruchel, Pierre-Simon Rohrlich, Jérémie Rouger-Gaudichon, Stéphane Ducassou, Virginie Gandemer, Benoit Brethon, Arnaud Petit, Carine Halfon-Domenech, Nicolas Boissel, Thierry Leblanc, Pascale Schneider, Guy Leverger, Gérard Michel, Université Paris Cité (UPCité), Hôpital Robert Debré, Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Groupe hospitalier Pellegrin, CHU Pontchaillou [Rennes], Sorbonne Université (SU), CHU Marseille, Centre Hospitalier Universitaire de Nice (CHU Nice), CHU Rouen, Normandie Université (NU), Hôpital Lapeyronie [Montpellier] (CHU), and Université de Paris (UP)
Subjects: 0301 basic medicine, Cancer Research, 2019-20 coronavirus outbreak, Down syndrome, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Adolescent, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), [SDV]Life Sciences [q-bio], [SDV.CAN]Life Sciences [q-bio]/Cancer, Article, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Disease management (health), Acute lymphoblastic leukemia-children-adolescents, Child, Mexico, Pandemics, business.industry, SARS-CoV-2, COVID-19, Hematology, General Medicine, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Comorbidity, 3. Good health, Leukemia, 030104 developmental biology, Oncology, Radiology Nuclear Medicine and imaging, 030220 oncology & carcinogenesis, Family medicine, Acute lymphoblastic leukemias, business
Abstract: International audience; Since the emergence of the SARS-CoV-2 infection many recommendations have been made. However the very nature of acute lymphoblastic leukemias and their treatment in children and adolescents led the Leukemia Committee of the French Society for the fight against cancers and leukemias in children and adolescents (SFCE) to propose more specific recommendations even if data for this population are still scarce. They may have to evolve according to the rapid evolution of knowledge on COVID-19.
Published: 2020
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24. Long-term follow-up of children with risk organ-negative Langerhans cell histiocytosis after 2-chlorodeoxyadenosine treatment

Author: Anne Lambilliotte, Nathalie Aladjidi, Jean-François Emile, Geneviève Plat, Sébastien Héritier, Anne Lutun, Mohamed-Aziz Barkaoui, Eric Jeziorski, Caroline Thomas, Fabienne Toutain, J. Donadieu, Despina Moshous, Abdelatif Tazi, Marion Gillibert-Yvert, Kamila Kebaili, Anne Pagnier, Ludovic Mansuy, Damien Bodet, Frédéric Millot, Pascale Schneider, Guy Leverger, Yves Reguerre, Emma Queheille, Hélène Pacquement, Natacha Entz-Werle, Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de référence des Histiocytoses [HU Saint-Louis, Lariboisière, Fernand-Widal - APHP], Hôpitaux Universitaires Saint-Louis, Lariboisière, Fernand-Widal, Centre de référence des Histiocytoses, Centre Hospitalier Universitaire de Bordeaux (CHU de Bordeaux), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Pathogénèse et contrôle des infections chroniques (PCCI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre Hospitalier Universitaire de Montpellier (CHU Montpellier ), Département d'Immunologie, hématologie et rhumatologie pédiatriques [Hôpital Necker-Enfants malades - APHP], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University Paris Descartes Sorbonne Paris Cité, Imagine Institute, Paris, Centre Hospitalier Universitaire de Lille (CHU de Lille), Institut d'hématologie et oncologie pédiatriques, 69008 Lyon, France, parent, Service de pédiatrie, adolescents, jeunes adultes [Institut Curie], Institut Curie [Paris], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Régional Universitaire de Strasbourg (CHRU de Strasbourg), Department of Hematology, Centre Hospitalier Universitaire (CHU), Faculté de Médecine, University of Normandie Caen, Centre Hospitalier Universitaire de Rouen, Centre Hospitalo-Universitaire de Grenoble (CHU de Grenoble), CHU Grenoble, CHU Amiens-Picardie, Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Centre Hospitalier Universitaire de Rennes (CHU Rennes), Centre Hospitalier Universitaire de la Réunion, Saint Denis de la Réunion, Centre hospitalier universitaire de Nantes (CHU Nantes), Immunologie humaine, physiopathologie & immunothérapie (HIPI (UMR_S_976 / U976)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Association Histiocytose France, AHF, Les 111 des Arts Association, la Petite Maison dans la Prairie, Mission Interministérielle de Lutte Contre les Drogues et les Conduites Addictives, MILDECA, Institut de Veille Sanitaire, InVS, Institut National de la Santé et de la Recherche Médicale, Inserm, Roche, Société Française de lutte contre les Cancers de l'Enfant et de l'Adolescent, Fédération Enfants et Santé, the Association Recherche et Maladie Hématologiques de l'Enfant, Gardrat family, Centre de Référence des Histiocytoses, We thank the patients and their families for their participation in this study. The authors thank Dr. Claire Galambrun who contributed to the diagnosis and care of the patient, and Jean Miron for the management of the data. This study was supported by grants from the Soci?t? Fran?aise de lutte contre les Cancers de l'Enfant et de l'Adolescent, the F?d?ration Enfants et Sant?, the Association Recherche et Maladie H?matologiques de l'Enfant, the Association Les 111 des Arts de Paris, and the Association la Petite Maison dans la Prairie. This project received ongoing support from the Association Histiocytose France. The French LCH registry was supported by a grant from InVS and INSERM for the rare disease registry, a grant from Roche, and funds from the Gardrat family. This study was based on research from the Centre de Reference des Histiocytoses (www.histiocytose.org)., and Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)
Subjects: Male, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], long-term follow-up, Disease, cladribine, Gastroenterology, Disease-Free Survival, 03 medical and health sciences, 0302 clinical medicine, Langerhans cell histiocytosis, children, Internal medicine, medicine, Chlorodeoxyadenosine, Humans, Cumulative incidence, Lymphocyte Count, Registries, Child, Cladribine, 2-chlorodeoxyadenosine, Childhood Langerhans Cell Histiocytosis, business.industry, Infant, Hematology, medicine.disease, 3. Good health, Discontinuation, Survival Rate, Histiocytosis, Langerhans-Cell, Child, Preschool, 030220 oncology & carcinogenesis, Female, France, business, Progressive disease, Follow-Up Studies, 030215 immunology, medicine.drug
Abstract: International audience; The nucleoside analogue, 2-chlorodeoxyadenosine (2CDA), was reported to be an active treatment for childhood Langerhans cell histiocytosis (LCH) without risk organ (RO−) involvement. However, we lack data on long-term effects of 2CDA treatment, including the disease reactivation rate, permanent sequelae and long-term tolerance. This study included 44 children from the French LCH registry, treated for a RO− LCH with 2CDA monotherapy (median number of six courses). The median age at the beginning of 2CDA was 3·6 years (range, 0·3–19·7 years) and the median follow-up after was 5·4 years (range, 0·6–15·1 years). Objective response to 2CDA was observed in 25 patients (56·8%), while six patients (13·6%) had stable disease and 13 patients (29·5%) exhibited progressive disease. Among patients without progression, only two experienced disease reactivation after 2CDA discontinuation. The five-year cumulative incidence of disease progression or reactivation after 2CDA therapy initiation was 34·3%. The lymphopenia reported in all cases [72% below absolute lymphocyte count (ALC) of 0·5 G/l], was addressed with appropriate prophylactic measures. Other toxicities above grade 2 were uncommon, and no second malignant neoplasm or neuropathy was reported. The five-year overall survival was 97·7%. In conclusion, we could confirm that 2CDA monotherapy was a beneficial long-term therapy for treating patients with RO− LCH. Appropriate management of induced immune deficiency is mandatory.
Published: 2020
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25. Hematopoietic Stem Cell Transplantation for Acute Lymphoblastic Leukemia: Why Do Adolescents and Young Adults Outcomes Differ from Those of Children? a Study on Behalf of the Francophone Society of Stem Cell Transplantation and Cellular Therapy (SFGM-TC)

Author: Yves Bertrand, Nicolas Blin, Lucie Planche, Virginie Gandemer, Natacha Maillard, Fanny Rialland, Jacques-Olivier Bay, Charlotte Jubert, Audrey Grain, Pierre-Simon Rohrlich, Nathalie Dhedin, Patrice Chevallier, Dominique Plantaz, Régis Peffault de Latour, Anna Berceanu, Catherine Paillard, Cécile Pochon, Anne Sirvent, Edouard Forcade, André Baruchel, Gérard Michel, Ibrahim yakoub Agha, Pascale Schneider, Stephanie Nguyen Quoc, Eolia Brissot, Jean-Hugues Dalle, and Fanny Gonzales
Subjects: Oncology, medicine.medical_specialty, business.industry, Lymphoblastic Leukemia, medicine.medical_treatment, Immunology, Cell Biology, Hematology, Hematopoietic stem cell transplantation, Biochemistry, humanities, Transplantation, Cell therapy, Internal medicine, Medicine, Young adult, Stem cell, business
Abstract: Introduction: Adolescents and Young Adults (AYA) represent a specific population in the Acute Lymphoblastic Leukemia (ALL) landscape, often presenting high-risk diseases and increased chemotherapy-related toxicities. Indications of Hematopoietic Stem Cell Transplantation for pediatric patients (HSCT) have been restricted to those with early poor response to chemotherapy. The same trend has led to a decrease of HSCT indications in AYAs, which are nevertheless still more frequent than in younger counterpart. Outcomes of AYAs after HSCT seemed to be worse than the ones of children in two previous studies published in 2013 and 2014. In Minneapolis, the decrease of overall survival in AYA was attributed to an excess of Treatment Related mortality (TRM) (28% versus 14%; p=0.04), but because of small numbers, factors influencing TRM were not identified. Our study aimed to compare, in a large cohort, the outcomes of children and AYA with ALL after HSCT and to determine factors influencing potential differences. Material and Methods: All patients aged between 1 and 25 years, reported in the SFGM-TC (Francophone Society of bone marrow transplantation and cellular therapy) registry, who received a first HSCT in treatment for ALL between 2005 and 2012 were included. The AYA group was defined by age range between 15 and 25 years old, according to European studies and the SFGM-TC. Data about diagnosis and transplantation procedure were prospectively collected in the registry. Before transplant procedure, patients or their parents/guardians provide a signed consent in order to be included in the registry. Results: 891 patients were included, 494 children and 397 AYA. Median time of follow up was 45.6 months (0 to 114). HSCT was performed in first CR for 56.8% of the AYAs, whereas 57.5% of children received HSCT in second CR or more advanced phase (p Five-year OS was lower in AYA 53.1% versus 64% (p = 0.0012) and we confirmed higher 5-years TRM in AYA 19% versus 13% (p=0.04). TRM incidence markedly rose after 10 years of age (from 9% before 10 years old to 20% between 10 and 15 years, and 17% after 15 years). Graft versus host disease and Relapse Free Survival probability (GRFS) was lower in AYA: 36% versus 47% (p=0.007), while Cumulative Incidence of Relapse (CIR) and acute Graft versus Host Disease (GvHD) incidence were both similar in our two groups: 32% and 61% in AYAs versus 27% and 59% in children, (p=0.19 and p=0.62), respectively. Thus, chronic GvHD, which occurred more frequently in AYA than in children (32% versus 19%, p In our multivariate analysis, two factors were associated with higher risk of cGvHD: use of PBSC as stem cell source (HR 1.41 [0.96-2.07], p=0.083), and absence of ATG use (HR associated with use of ATG: 0.62 [0.42-0.92], p=0.017) (Figure 3). Of note a subgroup analysis in patients who received a bone marrow transplant after a MAC, showed no TRM difference between AYA and children. Conclusion: AYA or patients aged more than 10 years, compared to ones aged less than 10 years have a worse outcome after HSCT for ALL. Excess of death in this specific population is mainly due cGvHD. Transplantation practices in those patients, particularly choice of stem cells source and GvHD prophylaxis, should be discussed. Their treatment adherence should also be questioned and reinforced by development of multidisciplinary teams. Figure 1 Figure 1. Disclosures Peffault De Latour: Pfizer: Membership on an entity's Board of Directors or advisory committees, Other: Travel support, Research Funding; Amgen: Consultancy, Other, Research Funding; Jazz Pharmaceuticals: Honoraria; Alexion, AstraZeneca Rare Disease: Consultancy, Honoraria, Membership on an entity's Board of Directors or advisory committees, Other: Travel support, Research Funding. Forcade: Novartis: Other: travel grant.
Published: 2021
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26. Compliance with Early Long-Term Prophylaxis Guidelines for Severe Hemophilia A

Author: Paul Saultier, Yves Guillaume, Virginie Demiguel, Claire Berger, Annie Borel-Derlon, Ségolène Claeyssens, Annie Harroche, Caroline Oudot, Anne Rafowicz, Marc Trossaert, Bénédicte Wibaut, Christine Vinciguerra, Mohamed Boucekine, Karine Baumstarck, Sandrine Meunier, Thierry Calvez, Hervé Chambost, Achille Aouba, Faezeh Legrand, Chantal Rothschild, Marie-Françoise Torchet, Roseline d’Oiron, Thierry Lambert, Yves Laurian, Jennifer Biernat, Jenny Goudemand, Armelle Parquet, Véronique Tintillier, Anne Durin Assollant, Claude Négrier, Sabine Castet, Viviane Guérin, Yohann Huguenin, Marguerite Micheau, Anne Ryman, Hérve Chambost, Céline Falaise, Marie Françoise Thiercelin-Legrand, Marianne Fiks-Sigaud, Marc Fouassier, Edith Fressinaud, Sophie Voisin, Albert Faradji, Patrick Lutz, Marie Elisabeth Briquel, Birgit Frotscher, Béatrice Fimbel, Yves Gruel, Claude Guerois, Sandra Regina, Jean Baptiste Valentin, Christine Biron Andreani, Philippe Codine, Daniel Donadio, Robert Navarro, Paola Rospide, Jean-François Schved, Bénédicte Collet, Annie Borel Derlon, Philippe Gautier, Sophie Bayart, Ben⊚ıt Guillet, JeanneYvonne Borg, Cécile Dumesnil, Charline Normand, Pascale Schneider, Philippe Tron, Jean-Pierre Vannier, Fabienne Dutrillaux, Fabienne Volot, Piotr Gembara, Alain Marques-Verdier, Dalila Adjaoud, Claire Barro, Gilles Pernod, Ben⊚ıt Polack, Patricia Pouzol, Nadra Ounnoughene, Patricia Paugy, Valérie Robert, Natalie Stieltjes, Brigitte Bastenaire, Emmanuelle de Raucourt, Jocelyne Peynet, Valérie Li-Thiao-Te, Brigitte Pautard, Catherine Behar, Stéphanie Gorde, Martine Munzer, Valérie Gay, Elisabeth Benz Lemoine, Laurent Macchi, Lionel De Lumley, Solange Gaillard, Anne Deville, Fabrice Monpoux, Marie Anne Bertrand, Brigitte Pan-Petesch, Abel Hassoun, Brigitte Coatmelec, Philippe Beurrier, Michèle Damay, Philippe Moreau, Odile Pouille-Lievin, Caroline Schoepfer, Eliane Tarral, Monique Bianchin, Joël Nguyen, Olivier Pincemaille, Marie-Odile Peter, Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hôpital de la Timone [CHU - APHM] (TIMONE), Assistance Publique - Hôpitaux de Marseille (APHM), Hôpitaux de Saint Maurice (HNSM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Centre Universitaire des Maladies Rénales [CHU Caen] (CUMR Caen), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Limoges, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hospices Civils de Lyon (HCL), Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and Université de Montpellier (UM)
Subjects: Male, Pediatrics, medicine.medical_specialty, Multivariate analysis, [SDV]Life Sciences [q-bio], Population, Long term prophylaxis, Kaplan-Meier Estimate, Hemophilia A, Severe hemophilia A, Severity of Illness Index, Early initiation, Drug Administration Schedule, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Humans, Medicine, Cumulative incidence, 030212 general & internal medicine, Practice Patterns, Physicians', education, Birth Year, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, education.field_of_study, business.industry, Infant, Newborn, Infant, Blood Coagulation Factors, Logistic Models, Child, Preschool, Practice Guidelines as Topic, Pediatrics, Perinatology and Child Health, Cohort, France, Guideline Adherence, Joint Diseases, business
Abstract: International audience; Objectives: To evaluate the applicability and compliance with guidelines for early initiation of long-term prophylaxis in infants with severe hemophilia A and to identify factors associated with guideline compliance.Study design: This real-world, prospective, multicenter, population-based FranceCoag study included almost all French boys with severe hemophilia A, born between 2000 and 2009 (ie, after guideline implementation).Results: We included 333 boys in the study cohort. The cumulative incidence of long-term prophylaxis use was 61.2% at 3 years of age vs 9.5% in a historical cohort of 39 boys born in 1996 (ie, before guideline implementation). The guidelines were not applicable in 23.1% of patients due to an early intracranial bleeding or inhibitor development. Long-term prophylaxis was delayed in 10.8% of patients. In the multivariate analysis, 2 variables were significantly associated with "timely long-term prophylaxis" as compared with "delayed long-term prophylaxis": hemophilia treating center location in the southern regions of France (OR 23.6, 95% CI 1.9-286.7, P = .013 vs Paris area) and older age at long-term prophylaxis indication (OR 7.2 for each additional year, 95% CI 1.2-43.2, P = .031). Long-term prophylaxis anticipation was observed in 39.0% of patients. Earlier birth year (OR 0.5, 95% CI 0.3-0.8, P = .010 for birth years 2005-2009 vs 2000-2004) and age at first factor replacement (OR 1.9 for each additional year, 95% CI 1.2-3.0, P = .005) were significantly associated with "long-term prophylaxis guideline compliance" vs "long-term prophylaxis anticipation."Conclusions: This study suggests that long-term prophylaxis guidelines are associated with increased long-term prophylaxis use. However, early initiation of long-term prophylaxis remains a challenge.
Published: 2021
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27. A Pharmacokinetic and Pharmacogenetic Analysis of Osteosarcoma Patients Treated With High-Dose Methotrexate: Data From the OS2006/Sarcoma-09 Trial

Author: Laurence Brugières, Celine Mahier Ait Oukhatar, Gabrielle Lui, Pascale Schneider, Brice Fresneau, Sophie Taque, Nadège Corradini, Claire Freycon, Valérie Laurence, Natacha Entz-Werle, Marie-Cécile Le Deley, Sophie Piperno-Neumann, Naïm Bouazza, Nathalie Gaspar, Frédéric Millot, Jean-Marc Tréluyer, Gwénaël Le Teuff, Jean-Claude Gentet, Hélène Pacquement, Perrine Marec Bérard, Cyril Lervat, Centre de Recherche Saint-Antoine (CR Saint-Antoine), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CIC-0901, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Département d'Oncologie Médicale [Institut Curie, Paris], Institut Curie [Paris], Département d'Oncologie Pédiatrique [CHU Nantes], Hôpital Mère-Enfant, CHU de Nantes, Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'hémato-immuno-oncologie pédiatrique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Département d'Oncologie Pédiatrique [CHU Hautepierre, Strasbourg], Hôpital de Hautepierre [Strasbourg], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service de médecine de l'enfant et de l'adolescent, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université Grenoble Alpes - UFR Médecine (UGA UFRM), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université Lille Nord de France (COMUE)-UNICANCER, Epidémiologie des cancers : Radiocarcinogénèse et effets iatrogènes des traitements, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche en épidémiologie et santé des populations (CESP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris-Sud - Paris 11 (UP11)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), CIC - Mère Enfant Necker Cochin Paris Centre (CIC 1419), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de médecine de l'enfant et de l'adolescent [CHU Rennes], CHU Pontchaillou [Rennes], Université de Lille-UNICANCER, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]-CHU Necker - Enfants Malades [AP-HP], Institut Curie, Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Université Grenoble Alpes (UGA), Center Oscar Lambret, CRLCC Oscar Lambret, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM), and CHU Cochin [AP-HP]-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, Antimetabolites, Antineoplastic, Adolescent, [SDV]Life Sciences [q-bio], Population, Bone Neoplasms, Single-nucleotide polymorphism, Pharmacology, Polymorphism, Single Nucleotide, 030226 pharmacology & pharmacy, 03 medical and health sciences, 0302 clinical medicine, Pharmacokinetics, Genetic model, medicine, Humans, Pharmacology (medical), Prospective Studies, Child, education, ComputingMilieux_MISCELLANEOUS, Body surface area, Osteosarcoma, education.field_of_study, biology, business.industry, Multidrug Resistance-Associated Protein 2, 3. Good health, Methotrexate, Gene Expression Regulation, 030220 oncology & carcinogenesis, biology.protein, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Carrier Proteins, SLCO1B1, business, Pharmacogenetics, medicine.drug
Abstract: Growing evidence suggests that polymorphisms of genes coding for transporters or enzymes may partially explain the large between subject variability reported for methotrexate (MTX) pharmacokinetics (PK). This prospective study aimed to develop a population PK-pharmacogenetic model to evaluate the part of between-subject variability due to single-nucleotide polymorphisms (SNPs) in transporters and enzyme genes implicated in MTX distribution and elimination. MTX concentrations and 54 SNPs (located in ABCB1, ABCC1, ABCC2, ABCC3, ABCC4, ABCG2, SLC19A1, SLCO1B1, and UGT1A1 genes) were analyzed in patients treated with MTX included in the OS2006/sarcoma-09 trial (a multicenter, open-label, phase III trial, ClinicalTrials.gov. Identifier: NCT00470223). PK data were analyzed using the nonlinear mixed-effect modeling software program Monolix. The influence of each SNP was evaluated using a stepwise procedure under additive, recessive, or dominant genetic model. The likelihood ratio test was used to test the effect of each SNP on PK parameters. Overall, 187 patients with 7898 MTX blood concentrations were included in the PK-pharmacogenetic analysis. A 2-compartment model adequately described the data. Although high-dose MTX dosing recommendations in pediatric patients are currently based on body surface area, body weight was more predictive of clearance between-subject variability than body surface area. The most significant polymorphism associated with MTX clearance was rs13120400 (on the ABCG2 gene) under the recessive genetic model (P < .0001). GG genotype carriers for rs13120400 appeared to have a moderate decrease in MTX exposure compared to AA or GA carriers.
Published: 2018
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28. Determinants of adherence and consequences of the transition from adolescence to adulthood among young people with severe haemophilia (TRANSHEMO): study protocol for a multicentric French national observational cross-sectional study

Author: Noémie Resseguier, Natacha Rosso-Delsemme, Any Beltran Anzola, Karine Baumstarck, Vanessa Milien, Laurent Ardillon, Sophie Bayart, Claire Berger, Marie-Anne Bertrand, Christine Biron-Andreani, Annie Borel-Derlon, Sabine Castet, Pierre Chamouni, Ségolène Claeyssens Donadel, Emmanuelle De Raucourt, Dominique Desprez, Céline Falaise, Birgit Frotscher, Valérie Gay, Jenny Goudemand, Yves Gruel, Benoît Guillet, Annie Harroche, Abel Hassoun, Yoann Huguenin, Thierry Lambert, Aurélien Lebreton, Anne Lienhart, Michèle Martin, Sandrine Meunier, Fabrice Monpoux, Guillaume Mourey, Claude Negrier, Philippe Nguyen, Placide Nyombe, Caroline Oudot, Brigitte Pan-Petesch, Benoît Polack, Anne Rafowicz, Antoine Rauch, Delphine Rivaud, Pascale Schneider, Alexandra Spiegel, Cecile Stoven, Brigitte Tardy, Marc Trossaërt, Jean-Baptiste Valentin, Stéphane Vanderbecken, Fabienne Volot, Annelise Voyer-Ebrard, Bénédicte Wibaut, Tanguy Leroy, Thomas Sannie, Hervé Chambost, Pascal Auquier, Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Aix Marseille Université (AMU), Hématogoie pédiatrique, hôpital Sud, Département d'hématologie biologique[Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Saint Eloi (CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Laboratoire d'Hématologie Biologique [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire d'hématologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Centre Hospitalier de Versailles André Mignot (CHV), Service de pédiatrie, d'hématologie et d'oncologie [Hôpital de La Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service d’Hématologie Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'Hématologie, Centre Hospitalier Chambéry, Hôpital cardiologique, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Groupe innovation et ciblage cellulaire (GICC), EA 7501 [2018-...] (GICC EA 7501), Université de Tours (UT), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Unité de Nutrition Humaine (UNH), Institut National de la Recherche Agronomique (INRA)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre Hospitalier Universitaire de Nancy (CHU Nancy), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (RIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS BFC)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Universitaire de Lyon (CHU Lyon), Service de Pédiatrie médicale - Spécialités médicales [CHU Limoges], CHU Limoges, Hôpital Morvan [Brest], Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), CIC Brest, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Cavale Blanche, Thérapeutique Recombinante Expérimentale (TIMC-IMAG-TheREx), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Service d'hémato-immuno-oncologie pédiatrique [Rouen], Groupe de recherche sur la thrombose, pharmacologie des antithrombotiques et situations à risque (GRT), Université Jean Monnet - Saint-Étienne (UJM), Centre hospitalier universitaire de Nantes (CHU Nantes), Groupe de Recherche en Psychologie Sociale (GRePS), Université Lumière - Lyon 2 (UL2), Service d'hématologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire de Santé Publique, Université de la Méditerranée - Aix-Marseille 2, Ministère des Affaires Sociales et de la Santé, Filière MHEMO, Université Aix-Marseille, Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-CHU Saint-Eloi, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté]), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Groupe de recherche sur la thrombose (GRT (EA 3065)), Université Jean Monnet [Saint-Étienne] (UJM), Hôpital Sud, Centre hospitalier de Versailles André-Mignot, 177, rue de Versailles, 78150 Le Chesnay, France, parent, Université de Tours, Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Unité de Nutrition Humaine - Clermont Auvergne (UNH), Institut National de la Recherche Agronomique (INRA)-Université Clermont Auvergne (UCA), CHU de Nancy - Hôpitaux de Brabois, Interactions hôte-greffon-tumeur, ingénierie cellulaire et génique - UFC (UMR INSERM 1098) (HOTE GREFFON), Université de Franche-Comté (UFC)-Etablissement français du sang [Bourgogne-France-Comté] (EFS [Bourgogne-France-Comté])-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Brest (UBO), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])-Université de Franche-Comté (UFC), and Jonchère, Laurent
Subjects: [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, Male, Activities of daily living, Cross-sectional study, [SDV]Life Sciences [q-bio], 030204 cardiovascular system & hematology, 0302 clinical medicine, Risk Factors, Academic Performance, Protocol, Early childhood, adherence, adolescents, Young adult, ComputingMilieux_MISCELLANEOUS, Qualitative Research, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, transition, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, General Medicine, 3. Good health, [SDV] Life Sciences [q-bio], Patient Satisfaction, Female, Family Relations, France, Psychosocial, Attitude to Health, Haematology (Incl Blood Transfusion), Adult, young adults, medicine.medical_specialty, Transition to Adult Care, Adolescent, haemophilia, Haemophilia, Hemophilia A, 03 medical and health sciences, Young Adult, Quality of life (healthcare), 030225 pediatrics, medicine, Humans, business.industry, Protective Factors, medicine.disease, Treatment Adherence and Compliance, Cross-Sectional Studies, Social Class, Family medicine, Quality of Life, Observational study, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: IntroductionSevere haemophilia is a rare disease characterised by spontaneous bleeding from early childhood, which may lead to various complications, especially in joints. It is nowadays possible to avoid these complications thanks to substitutive therapies for which the issue of adherence is major. The transition from adolescence to adulthood in young people with severe haemophilia is a critical period as it is associated with a high risk of lack of adherence to healthcare, which might have serious consequences on daily activities and on quality of life.Methods and analysisWe present the protocol for a cross-sectional, observational, multicentric study to assess the differences between adolescents and young adults with severe haemophilia in France through the transition process, especially on adherence to healthcare. This study is based on a mixed methods design, with two complementary and consecutive phases, comparing data from a group of adolescents (aged 14–17 years) with those from a group of young adults (aged 20–29 years). The quantitative phase focuses on the determinants (medical, organisational, sociodemographic and social and psychosocial and behavioural factors) of adherence to healthcare (considered as a marker of the success of transition). The qualitative phase explores participants’ views in more depth to explain and refine the results from the quantitative phase. Eligible patients are contacted by the various Haemophilia Treatment Centres participating in the French national registry FranceCoag.Ethics and disseminationThe study was approved by the French Ethics Committee and by the French National Agency for Medicines and Health Products Safety (number: 2016-A01034-47). Study findings will be disseminated to the scientific and medical community in peer-reviewed journals and presented at scientific meetings. Results will be popularised to be communicated via the French association for people with haemophilia to participants and to the general public.Trial registration numberNCT02866526; Pre-results.
Published: 2018
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29. Salvage therapy with gemcitabine, vinorelbine, and pegylated liposomal doxorubicin for relapsed or refractory pediatric Hodgkin lymphoma. Results of a retrospective series of four children

Author: Nimrod Buchbinder, Marie Jaffray, Anne Lutun, Pascale Schneider, Jean-Michel Piquenot, Jean-Pierre Vannier, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), CHU Amiens-Picardie, Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Registre Multicentrique à Vocation Nationale des Mésothéliomes Pleuraux (MESONAT), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), and Micro-Environnement et Régulation Cellulaire Intégrée (MERCI)
Subjects: Male, Oncology, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Salvage therapy, [SDV.CAN]Life Sciences [q-bio]/Cancer, Vinblastine, Vinorelbine, Deoxycytidine, Polyethylene Glycols, 03 medical and health sciences, 0302 clinical medicine, Nodular sclerosis, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Child, Anaplastic large-cell lymphoma, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, 030304 developmental biology, Salvage Therapy, 0303 health sciences, Chemotherapy, Cardiotoxicity, business.industry, Hematology, General Medicine, medicine.disease, Hodgkin Disease, Gemcitabine, 3. Good health, Transplantation, Treatment Outcome, Doxorubicin, 030220 oncology & carcinogenesis, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, Neoplasm Recurrence, Local, business, medicine.drug
Abstract: While the vast majority of pediatric Hodgkin lymphoma (HL) is curable, the prognosis of early relapses and refractory diseases remains poor. Recently, the combination of gemcitabine, vinorelbine, and pegylated liposomal doxorubicin (GVD) displayed encouraging results on adults with relapsed/refractory diseases. Here, we retrospectively report the results of the GVD salvage regimen on four pediatric patients of our ward with a heavily pretreated relapsed/refractory HL. Three of them had nodular sclerosis subtype. They achieved a complete remission after two, three, or four courses of GVD and received high-dose chemotherapy followed by a stem-cell transplantation (auto-auto, auto-allo, and auto). They have been in sustained remission respectively for almost 2, 4, and 5 years. The fourth patient had a lymphocyte-depleted subtype which was initially diagnosed as anaplastic large cell lymphoma. After four courses of GVD, his disease stabilized then progressed again. In total, 15 cycles of GVD were applied to the patients. The toxicity of each course of GVD was mainly hematologic. No cardiotoxicity occurred despite a prior exposure to anthracyclines and radiotherapy. Thus, the GVD combination seems to be an effective pre-transplant rescue treatment for pediatric patients.
Published: 2015
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30. Deep intronic hotspot variant explaining rhabdoid tumor predisposition syndrome in two patients with atypical teratoid and rhabdoid tumor

Author: Pascale Varlet, Laurence Brugières, Thierry Frebourg, Annie Laquerrière, Gaëlle Pierron, Stéphanie Puget, Olivier Delattre, Julien Masliah-Planchon, Franck Bourdeaut, Damien Bodet, Christelle Dufour, Arnault Tauziède-Espariat, Emmanuèle Lechapt-Zalcman, Pascale Schneider, CH Belfort-Montbéliard, Pathologie cellulaire : aspects moléculaires et viraux / Pathologie et Virologie Moléculaire, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Service de neurochirurgie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Psychiatrie et Neurosciences (U894), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'hémato-immuno-oncologie pédiatrique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Anatomie et Cytologie Pathologique [CHU Rouen], Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Hypoxie, physiopathologies cérébrovasculaire et tumorale (CERVOxy), Imagerie et Stratégies Thérapeutiques des pathologies Cérébrales et Tumorales (ISTCT), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Unit of Somatic Genomics, Department of Genetics, Institut Curie [Paris], Unité de génétique et biologie des cancers (U830), Université Paris Descartes - Paris 5 (UPD5)-Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Génétique Somatique, Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de psychiatrie et neurosciences (U894 / UMS 1266), Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, Centre National de la Recherche Scientifique (CNRS)-Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), and TAN, Yossan-Var
Subjects: Male, 0301 basic medicine, medicine.medical_specialty, [SDV.IMM] Life Sciences [q-bio]/Immunology, [SDV]Life Sciences [q-bio], Short Report, Biology, Bioinformatics, Germline, Rhabdoid Tumor Predisposition Syndrome, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Molecular genetics, Genetics, medicine, Humans, SMARCB1, Cells, Cultured, Germ-Line Mutation, Rhabdoid Tumor, Genetics (clinical), Teratoma, Cytogenetics, Infant, SMARCB1 Protein, Introns, Human genetics, 3. Good health, [SDV] Life Sciences [q-bio], 030104 developmental biology, 030220 oncology & carcinogenesis, Medical genetics, [SDV.IMM]Life Sciences [q-bio]/Immunology
Abstract: About one third of patients with rhabdoid tumors (RT) harbor a heterozygous germline variant in SMARCB1. Molecular diagnosis therefore keeps a crucial place in the diagnosis of RT, and genetic counseling should be systematically recommended. However, immunohistochemistry has progressively replaced molecular tools to assess the status of SMARCB1 in tumors; the necessity of analyzing SMARCB1 status in the tumor may thus be less considered by neuropathologists and pediatric neuro-oncologists. In the present manuscript as aforementioned, we report on two patients with bifocal RT in the first month of life and in whom no germline variant was initially found in the SMARCB1 coding sequence. Careful analysis of SMARCB1 status in the tumors revealed that only one of the two inactivating hits was found in the coding sequence. By sequencing the tumor cells RNA, we were able to detect an insertion with an abnormal sequence, due to the same intronic variant of SMARCB1, which led to the exonisation of the first intron. This cryptic variant was absent in the germline DNA of both patients. Of note, we previously reported one patient with the same deep intronic variant in the germline in a soft tissue RT. To our mind, this additional report on two patients clearly demonstrates that this intronic variant is a new hotspot that should now be systematically added to the germline screening of SMARCB1. We therefore recommend searching for and cautiously interpreting germline analysis if SMARCB1 has not been extensively studied in the tumor.
Published: 2017
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31. Thrombose veineuse cérébrale et thrombopénie immune chez une enfant de sept ans : une association fortuite ?

Author: N. Buchbinder, T. Blanc, Pascale Schneider, A. Lebas, M. Cotillon, and J.-P. Vannier
Subjects: medicine.medical_specialty, biology, business.industry, Autoantibody, medicine.disease, Thrombosis, Gastroenterology, Purpura, Venous thrombosis, immune system diseases, hemic and lymphatic diseases, Internal medicine, Pediatrics, Perinatology and Child Health, biology.protein, Medicine, Platelet, Platelet activation, medicine.symptom, Antibody, Risk factor, business
Abstract: Primary immune thrombocytopenia (ITP) is an autoimmune disorder characterized by autoantibody-mediated peripheral platelet destruction. It is rarely accompanied by thrombosis. Here, we describe a wide cerebral venous thrombosis that occurred at the onset of a primary ITP in a 7-year-old girl. ITP was confirmed by the presence of anti-platelet antibodies. Whether ITP is a risk factor for venous thrombosis is a matter of debate. The platelet microparticles released during the platelet destruction and the interaction between the autoantibodies and the platelet glycoproteins may contribute to platelet activation. Increased risk of thromboembolic events should be considered in all patients with ITP, including children.
Published: 2014
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32. Corticothérapie préalable au diagnostic de leucémie aiguë lymphoblastique (LAL) de l’enfant : effet délétère pour la prise en charge diagnostique et thérapeutique

Author: S. Gatineau-Sailliant, J.-P. Vannier, N. Buchbinder, Marie Paule Callat, Brigitte Nelken, B. Pautard, and Pascale Schneider
Subjects: Precursor Cell Lymphoblastic Leukemia Lymphoma, Gynecology, medicine.medical_specialty, Multicenter study, business.industry, Pediatrics, Perinatology and Child Health, Medicine, business
Abstract: Resume Objectif Montrer qu’une corticotherapie avant le diagnostic de leucemie aigue lymphoblastique (LAL) peut entrainer des difficultes dans la prise en charge de la maladie. Patients et methodes Etude retrospective de 2005 a 2011, multicentrique sur 11 enfants ayant recu une corticotherapie orale a la dose de 0,6 a 3,3 mg/kg/j d’equivalent prednisolone pendant 2 a 15 jours dans les deux mois precedant le diagnostic de LAL. Resultats Quatre enfants s’etaient presentes avec une pancytopenie febrile, dont 2 avec un sepsis severe et un myelogramme initial ne permettant pas le diagnostic en temps utile. L’un d’entre eux avait souffert d’un syndrome de lyse brutale et sejourne a deux reprises en reanimation. Une atteinte meningee avait ete observee chez 2 adolescents ayant une LAL-T, avec des lesions cutanees pour l’un, une leucostase cerebrale et pulmonaire, avec insuffisance renale et coagulation intravasculaire disseminee (CIVD) pour l’autre. Une enfant etait decedee d’un choc septique lors de l’induction d’une LAL-T corticoresistante. Quatre enfants n’avaient presente aucune complication pendant l’induction. Une corticoresistance avait ete notee chez 5 enfants, alors que la reponse aux corticoides n’etait pas evaluable chez 3 autres enfants. Trois allogreffes de moelle avaient ete realisees : la premiere pour une rechute meningee precoce et les 2 autres pour des LAL-T refractaires a l’induction. Conclusion Les corticoides peuvent etre a l’origine d’un retard a la prise en charge de la LAL et semblent majorer les complications initiales, voire favoriser des atteintes diffuses ainsi qu’une corticoresistance ulterieure. La prudence est donc requise quant a leur prescription notamment devant des tableaux cliniques infectieux peu specifiques, pour lesquels une numeration formule sanguine (NFS) est particulierement recommandee.
Published: 2013
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33. Cryopréservation du tissu testiculaire chez l’enfant

Author: Agnès Liard-Zmuda, Aude Marie-Cardine, Brahim Arkoun, A. Bironneau, Albanne Travers, Bertrand Macé, J.-P. Milazzo, Jean-Pierre Vannier, Nathalie Rives, Louis Sibert, and Pascale Schneider
Subjects: Infertility, endocrine system, urogenital system, business.industry, General Medicine, medicine.disease, Cryopreservation, In vitro maturation, Transplantation, Andrology, In vivo, Toxicity, medicine, Ovarian tissue cryopreservation, business, Spermatogenesis
Abstract: The toxicity of cancer therapies can affect all organs and tissues. Some treatments damage spermatogonial stem cells (SSCs), with a risk of infertility. Storage and reimplantation of frozen testicular tissue is a recent approach tofertilitypreservationfor young boys. However, thawed frozen prepubertal testicular tissue must undergo a maturation process to restore sperm production. This process, currently being studied in animal models, can be achieved by in vivo transplantation of SSCs into seminiferous tubules or by testicular grafting, possibly following in vitro maturation.
Published: 2013
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34. French Multicenter 22-Year Experience in Stem Cell Transplantation for Beta-Thalassemia Major: Lessons and Future Directions

Author: Claire, Galambrun, Corinne, Pondarré, Yves, Bertrand, Anderson, Loundou, Pierre, Bordigoni, Pierre, Frange, Patrick, Lutz, Valérie, Mialou, Hervé, Rubie, Gérard, Socié, Pascale, Schneider, Françoise, Bernaudin, Catherine, Paillard, Gérard, Michel, Catherine, Badens, Isabelle, Thuret, and Karima, Yakouben
Subjects: Adult, Male, medicine.medical_specialty, Pediatrics, Transplantation Conditioning, Adolescent, medicine.medical_treatment, HSC transplant, Hematopoietic stem cell transplantation, Disease-Free Survival, hemic and lymphatic diseases, medicine, Humans, Transplantation, Homologous, Busulfan, Cyclophosphamide, Survival rate, Retrospective Studies, Transplantation, business.industry, Siblings, Incidence (epidemiology), beta-Thalassemia, Hematopoietic Stem Cell Transplantation, Infant, Beta thalassemia, Retrospective cohort study, Hematology, Myeloablative Agonists, medicine.disease, Surgery, Survival Rate, surgical procedures, operative, Child, Preschool, Thalassemia, Female, France, Antithymocyte globulin, business, Follow-Up Studies, medicine.drug
Abstract: Although hematopoietic stem cell transplantation (HSCT) offers curative potential for beta-thalassemia major (beta-TM), it is associated with a variable but significant incidence of graft rejection. We studied the French national experience for improvement over time and the potential benefit of antithymocyte globulin (ATG). Between December 1985 and December 2007, 108 patients with beta-TM underwent HSCT in 21 different French transplantation centers. The majority of patients received a matched sibling transplant (n = 96) and a busulfan- and cyclophosphamide-based conditioning regimen (n = 95), also with ATG in 57 cases. Ninety-five of the 108 patients survived, with a median follow-up of 12 years. Probabilities of 15-year survival and thalassemia-free survival after first HSCT were 86.8% and 69.4%, respectively. Graft failure occurred in 24 patients, 11 of whom underwent a second HSCT. The use of ATG was associated with a decrease in rejection rate from 35% to 10%. Thalassemia-free survival improved significantly with time, reaching 83% in the 54 patients undergoing HSCT after 1994 (median time of HSCT). In view of the increased risk of graft rejection after matched sibling HSCT, current French national guidelines recommend, for all children at risk for beta-TM, the systematic addition of ATG to the myeloablative conditioning regimen and special attention to optimize transfusion and chelation therapy in the pretransplantation period.
Published: 2013
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35. Multiplexed targeted sequencing of recurrent fusion genes in acute leukaemia

Author: Emilie Lemasle, Marie Cornic, Vannier Jp, Pierre-Julien Viailly, Dominique Penther, Sydney Dubois, Stéphane Leprêtre, N. Buchbinder, Camus, Fabrice Jardin, Girod C, Philippe Ruminy, Philippe Bertrand, Sylvain Mareschal, Jean-Michel Picquenot, Pascale Schneider, Larson T, G Buchonnet, David Rizzo, Joly B, Pascaline Etancelin, Angot E, Christian Bastard, Elodie Bohers, Marchand, Hervé Tilly, Florian Clatot, Mathieu Viennot, Groupe d'étude des proliférations lymphoïdes (GPL), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen (CLCC Henri Becquerel), Argelander-Institut für Astronomie (AlfA), and Rheinische Friedrich-Wilhelms-Universität Bonn
Subjects: 0301 basic medicine, Cancer Research, Oncogene Proteins, Oncogene Proteins, Fusion, Chromosomes, Human, Pair 21, [SDV]Life Sciences [q-bio], Molecular Sequence Data, Chromosomal translocation, Biology, Translocation, Genetic, Fusion gene, 03 medical and health sciences, Text mining, Humans, Base sequence, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Genetics, Chromosomes, Human, Pair 15, Leukemia, Base Sequence, business.industry, Reverse Transcriptase Polymerase Chain Reaction, High-Throughput Nucleotide Sequencing, Hematology, 030104 developmental biology, Oncology, Acute Disease, Cytogenetic Analysis, Biological Assay, business, Oligonucleotide Probes, Chromosomes, Human, Pair 17
Abstract: International audience
Published: 2016
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36. What Role for Angiogenesis in Childhood Acute Lymphoblastic Leukaemia?

Author: Isabelle Dubus, Flore Gouel, E. Legrand, Pascale Schneider, Marc Vasse, and Vannier Jp
Subjects: business.industry, HL60, Angiogenesis, Basic fibroblast growth factor, Review Article, Hematology, Vascular endothelial growth factor, Myelogenous, chemistry.chemical_compound, medicine.anatomical_structure, Vascularity, chemistry, Immunology, Cancer research, Medicine, Lymphoblastic leukaemia, Diseases of the blood and blood-forming organs, Bone marrow, RC633-647.5, medicine.symptom, business
Abstract: The role of angiogenesis in acute leukaemia has been discussed since the cloning of the gene ofvascular endothelial growth factor(VEGF) from the acute myelogenous leukemia cell line (HL60) and, thereafter, when the first studies reported increased bone marrow vascularity and elevation of angiogenic cytokines in acute lymphoblastic leukaemia (ALL). VEGF andbasic fibroblast growth factor(bFGF) are the major proangiogenic cytokines that have been studied, and evaluation of their prognostic impact in childhood ALL has been reported in several studies, though with controversial results. The antiangiogenic response, contributing to the angiogenic balance, has scarcely been reported. The origin of the factors, their prognostic value, and their relevance as good markers of what really happens in the bone marrow are discussed in this paper. The place of antiangiogenic drugs in ALL has to be defined in the global treatment strategy.
Published: 2011
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37. Thrombose veineuse rénale d’aspect atypique révélant un déficit homozygote en antithrombine de type II HBS

Author: Stéphane Marret, Marie-Hélène Chrétien, Marie-Amelyne Le Rouzic, Pascale Schneider, Didier Pinquier, Lenaig Abily-Donval, and Emmanuelle Bertrand
Subjects: Oncology, Pediatrics, Perinatology and Child Health, Hematology
Abstract: Introduction L’antithrombine (AT) est un inhibiteur physiologique de la coagulation. Le deficit en AT peut etre quantitatif (type I) ou qualitatif (type II) et responsable d’une majoration du risque thromboembolique. Le deficit de type II HBS (heparin binding site) de transmission autosomique dominante correspond a une anomalie fonctionnelle rare de liaison a l’heparine. Observation Nous rapportons ici le cas d’un nouveau-ne d’un jour, premier enfant d’un couple non consanguin d’origine roumaine, adresse pour decouverte post-natale d’une masse abdominale. Une premiere echographie retrouve une nephromegalie droite d’aspect heterogene avec des zones hyperechogenes non vascularisees au doppler associees a un epanchement perirenal. Cet aspect, quoi qu’inhabituel, fait evoquer en premier lieu une thrombose de la veine renale bien qu’une masse tumorale ne puisse etre exclue par l’IRM. L’ensemble des marqueurs tumoraux est revenu negatif. Le diagnostic de thrombose renale est retenu et le bilan de thrombophilie retrouve une activite de l’antithrombine a 7 % avec un taux d’antigene de l’antithrombine a 51 % et une activite antithrombine progressive normale, orientant vers un deficit qualitatif en antithrombine de type HBS. L’analyse du gene SERPINC1 retrouve la presence a l’etat homozygote d’une mutation ponctuelle induisant une transformation p.Leu131Phe presente a l’etat heterozygote chez les deux parents. Un traitement substitutif par aclotine associe a une HBPM a ete mis en place puis relaye par un traitement par AVK prolonge. L’evolution se fera vers une atrophie sequellaire du rein droit. Conclusion Le deficit homozygote en antithrombine de type II HBS est une pathologie rare dont les manifestations peuvent etre neonatales a l’etat homozygote. Une prise en charge pluridisciplinaire entre neonatologistes, hematopediatres, radiologues et biologistes est indispensable pour guider les specificites du traitement anticoagulant.
Published: 2016
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38. Increased levels of tissue factor activity and procoagulant phospholipids during treatment of children with acute lymphoblastic leukaemia

Author: Patrick Van Dreden, Aurélie Rousseau, Pascale Schneider, Marc Vasse, Elisabeth Legrand, Jean-Pierre Vannier, and Yusra Kassim
Subjects: Male, Vincristine, medicine.medical_specialty, Adolescent, Endothelium, Thrombomodulin, Pharmacology, Thromboplastin, Tissue factor, Acute lymphocytic leukemia, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, Humans, Medicine, Child, Cells, Cultured, Phospholipids, Hematology, business.industry, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Blood Coagulation Factors, medicine.anatomical_structure, Coagulation, Child, Preschool, Immunology, Female, Endothelium, Vascular, business, Glucocorticoid, medicine.drug
Abstract: Summary The use of l-asparaginase (l-ASP) in paediatric patients with acute lymphoblastic leukaemia (ALL) is associated with thrombotic complications. We evaluated the activities of tissue factor (TFa), thrombomodulin (TMa) and procoagulant phospholipids (PPL) in 26 consecutive children with ALL (25 B-ALL and one T-ALL) treated by the French Acute Lymphoblastic Leukemia group (FRALLE)-2000 protocol. Samples were obtained at diagnosis, after glucocorticoid (GC) therapy, during the induction phase with l-ASP, vincristine (VCR) and adriamycin (ADR), during the re-induction and within the week after treatment. Plasma levels of TFa, TMa and PPL increased gradually and significantly during the different phases of the treatment, with higher levels observed during the induction period, and decreased after treatment discontinuation. In vitro studies showed that the different drugs used for ALL treatment could induce a weak expression of TF and procoagulant activity (PCA) on normal and leukaemia blood cells, while a marked effect was observed on endothelial cells. In conclusion, these data indicate that, in addition to the well-identified increased in coagulation factors and inhibitor deficiencies, the injury of the endothelium could lead to the release of TF and PPL and could contribute to the hypercoagulability of children treated for ALL.
Published: 2010
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39. Refractory Nodular Lymphocyte Predominant Hodgkin Lymphoma Transformed to T-cell/Histiocyte-rich B-cell Lymphoma in an Adolescent

Author: Jean Pierre Vannier, Christian Bastard, Pascale Schneider, Jean Michel Picquenot, Lucile Couronné, and Sophie Laberge
Subjects: Male, Pathology, medicine.medical_specialty, Lymphoma, B-Cell, Adolescent, Lymphocyte, T cell, Salvage therapy, Lymphoma, T-Cell, Immunophenotyping, Diagnosis, Differential, Refractory, immune system diseases, hemic and lymphatic diseases, medicine, Humans, Transplantation, Homologous, B-cell lymphoma, Histiocyte, Bone Marrow Transplantation, Salvage Therapy, business.industry, Histiocytes, Hematology, medicine.disease, Hodgkin Disease, Cell Transformation, Neoplastic, medicine.anatomical_structure, Oncology, Pediatrics, Perinatology and Child Health, Immunology, Lymph Nodes, Neoplasm Recurrence, Local, Differential diagnosis, business
Abstract: According to biologic features, there is a substantial "gray zone" between nodular lymphocyte predominant Hodgkin lymphomas (NLPHLs) (Poppema lymphomas) and T-cell/histiocyte-rich B-cell lymphomas (T/HRBCLs). Transformation from an NLPHL to a T/HRBCL can occur and is associated with a worsening of the prognosis. Here is described a case of a 16-year-old boy who presented with an NLPHL with features of T/HRBCL. Clinical evolution was complicated by 2 relapses leading to autologous and then to allogeneic bone marrow transplantation.
Published: 2008
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40. Multicenter Randomized Trial of Chewing Gum For Preventing Oral Mucositis in Children Receiving Chemotherapy

Author: Lionel de Lumley, Virginie Gandemer, Patrick Boutard, Nicolas Sirvent, Anne Auvrignon, Claudine Schmitt, Martine Bonnaure-Mallet, Pascale Schneider, Daniel Orbach, Brigitte Pautard, Michel Duval, Jean-Hugues Dalle, Olivier Hartmann, Gérard Couillaut, Yves Reguerre, Valérie Doireau, Marie-Cécile Le Deley, Catherine Dollfus, Francoise Mechinaud, Agnès Suc, and F. Aubier
Subjects: Male, medicine.medical_specialty, Saliva, Adolescent, medicine.medical_treatment, Dentistry, Gastroenterology, law.invention, Chewing Gum, Randomized controlled trial, Risk Factors, law, Neoplasms, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, medicine, Mucositis, Humans, Oral mucosa, Child, Stomatitis, Chemotherapy, business.industry, Hematology, medicine.disease, Chemotherapy regimen, Chewing gum, Clinical trial, stomatognathic diseases, medicine.anatomical_structure, Oncology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business
Abstract: The properties of saliva led us to hypothesize that the salivary flow increase induced by gum chewing might protect the oral mucosa from lesions due to cancer chemotherapy. We conducted a multicenter randomized trial to evaluate the efficacy of chewing gum in preventing oral mucositis in 145 children receiving chemotherapy regimens expected to induce WHO grade 3-4 oral mucositis in at least 30% of patients. Patients were allocated at random to standard oral care with or without 5 gum pieces per day. No overall reduction in severe oral mucositis occurred in the gum arm (51%) compared with the standard arm (44%). VIDE, COPADM, and multidrug intensive chemotherapy caused severe oral mucositis in 75% of patients in both arms. In patients receiving less toxic regimens, a decrease in WHO grade 1-4 oral mucositis was noted in the gum arm compared with the standard arm (49% vs. 72%, P=0.03). In the multivariate analysis, the risk of oral mucositis was related only to the type of chemotherapy regimen, suggesting that further strategies for preventing oral mucositis could be mainly based on these criteria.
Published: 2007
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41. Ifosfamide-induced encephalopathy due to a novel formulation of ifosfamide

Author: Pascale Schneider, Jean-Pierre Vannier, Bruno Filhon, Marie Jaffray, Boris Lacarra, Charles Hervouet, UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Micro-Environnement et Régulation Cellulaire Intégrée (MERCI)
Subjects: Male, Pediatrics, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], Chemistry, Pharmaceutical, Encephalopathy, MEDLINE, 03 medical and health sciences, Young Adult, 0302 clinical medicine, medicine, Humans, Ifosfamide, Child, Antineoplastic Agents, Alkylating, ComputingMilieux_MISCELLANEOUS, Brain Diseases, business.industry, Infant, Hematology, medicine.disease, Oncology, 030220 oncology & carcinogenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Powders, business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, medicine.drug
Abstract: International audience
Published: 2015
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42. Follow-up of post-transplant minimal residual disease and chimerism in childhood lymphoblastic leukaemia: 90 d to react

Author: Jean-François Eliaou, Cécile Pochon, Pierre Bordigoni, Pierre Rohrlich, Alexandra Salmon, Gérard Michel, Pascale Schneider, Séverine Drunat, Nathalie Grardel, François Demeocq, Emmanuel Oger, Catherine Paillard, Philippe Jonveaux, Jean-Michel Cayuela, Gilbert Semana, Hélène Cavé, Jean-Hugues Dalle, Yves Bertrand, Geneviève Margueritte, Francoise Mechinaud, Virginie Gandemer, Marilyne Poirée, Dominique Plantaz, Brigitte Nelken, Elizabeth Macintyre, Service d'Urologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), CIC-IT Rennes, Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pharmacologie [Rennes], CHU Pontchaillou [Rennes], Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Robert Debré Paris, Hôpital Robert Debré, Service d'Hématologie-Oncologie Pédiatrique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire central d'hématologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Service d'Hématologie Cellulaire [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service hématologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre hospitalier universitaire de Nantes (CHU Nantes), Service d'hématologie, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de pédiatrie, CHU Grenoble, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Service d'hématologie pédiatrique, CHU Clermont-Ferrand, Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service Hématologie Infantile, Hopital L'Archet-II, Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), RENNES - Centre de Transfusion Sanguine (RENNES - CTS), Centre de Transfusion Sanguine - RENNES, Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Unité de Transplantation Médullaire, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Hôpital d'enfants, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS), Hématogoie pédiatrique, 2003, Public Health Research Programme, and Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Oncology, Male, medicine.medical_specialty, Neoplasm, Residual, medicine.medical_treatment, Lymphocyte, [SDV]Life Sciences [q-bio], Graft vs Host Disease, stem cell transplantation, childhood leukaemia, Internal medicine, hemic and lymphatic diseases, medicine, Humans, Lymphocytes, Child, Proportional Hazards Models, Transplantation Chimera, business.industry, Hazard ratio, Hematopoietic Stem Cell Transplantation, Hematology, Immunotherapy, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Ciclosporin, Prognosis, Minimal residual disease, Adoptive Transfer, Tissue Donors, 3. Good health, Surgery, Transplantation, medicine.anatomical_structure, Treatment Outcome, chimerism, Cohort, minimal residual disease, Lymphoblastic leukaemia, Female, immunotherapy, business, medicine.drug, Follow-Up Studies
Abstract: International audience; Relapse after transplantation is a major cause of treatment failure in paediatric acute lymphoblastic leukaemia (ALL). Here, we report the findings of a prospective national study designed to investigate the feasibility of immune intervention in children in first or subsequent remission following myeloablative conditioning. This study included 133 children who received a transplant for ALL between 2005 and 2008. Minimal Residual Disease (MRD) based on T cell receptor/immunoglobulin gene rearrangements was measured on days -30, 30, 90 and 150 post-transplantation. Ciclosporin treatment was rapidly discontinued and donor lymphocyte infusions (DLI) were programmed for patients with a pre- or post-transplant MRD status ≥10(-3) . Only nine patients received DLI. Pre- and post-transplant MRD status, and the duration of ciclosporin were independently associated with 5-year overall survival (OS), which was 62·07% for the whole cohort. OS was substantially higher in patients cleared of MRD than in those with persistent MRD (52·3% vs. 14·3%, respectively). Only pre-transplant MRD status (Hazard Ratio 2·57, P = 0·04) and duration of ciclosporin treatment (P < 0·001) were independently associated with relapse. The kinetics of chimerism were not useful for predicting relapse, whereas MRD monitoring up to 90 d post-transplantation was a valuable prognostic tool to guide therapeutic intervention.
Published: 2015
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43. Solitary bone plasmocytoma of the spine in an adolescent

Author: B. Leluyer, S. Radi, C. Dumesnil, I. Dolgopolov, J.P. Vannier, and Pascale Schneider
Subjects: medicine.medical_specialty, Adolescent, medicine.medical_treatment, Bone Neoplasms, Plasma cell, Sensitivity and Specificity, Disease-Free Survival, Autologous stem-cell transplantation, medicine, Humans, Rachis, Multiple myeloma, Chemotherapy, Spinal Neoplasms, medicine.diagnostic_test, business.industry, Magnetic resonance imaging, Hematology, Prognosis, medicine.disease, Magnetic Resonance Imaging, Surgery, Radiation therapy, Treatment Outcome, medicine.anatomical_structure, Oncology, Pediatrics, Perinatology and Child Health, Female, Neoplasm Recurrence, Local, business, Plasmacytoma, Rare disease
Abstract: Solitary plasmocytoma (SP) represent only about 5% of plasma cell neoplasia. Most patients have generalized disease, that is, multiple myeloma (MM). Solitary bone plasmocytoma (SBP) is a localized plasma cell tumor and is a very rare disease in young patients. We reported here, a case of SPB in a 14-year-old girl with a 10-year disease-free survival after an aggressive treatment. The relationship of SBP to MM continues to be controversial. Recommendations on the diagnosis and management of SBP in adults, based on a literature search and consensus of expert opinion, were recently published on behalf of the Guidelines Working Group of the United Kingdom Myeloma Forum 1. MRI of the spine is necessary to assess local disease. Radiotherapy with doses of 45-50 Gy is the recommended treatment and gives a high rate of local control (83-96%). Chemotherapy remains controversial in contrast to MM, in which intensive chemotherapy with autologous bone marrow transplantation (ABMT) is widely accepted. At the present time, considering the good prognosis of patients with a normal MRI at diagnosis and a complete disappearance of the M protein after radiotherapy, we believe that ABMT should be reserved for relapse or primary therapeutic failure.
Published: 2006
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44. De novo acute myeloblastic leukemia with trilineage abnormalities and a t(3;12) in a child

Author: Marie Paule Callat, Pascale Schneider, Emmanuel Hazard, Jean-Pierre Vannier, and Christian Bastard
Subjects: Cancer Research, medicine.medical_specialty, Fatal outcome, Adolescent, Bone marrow transplantation, Myeloblastic leukemia, Cell lineage, Translocation, Genetic, Fatal Outcome, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Bone Marrow Transplantation, Chromosomes, Human, Pair 12, business.industry, Myelodysplastic syndromes, De novo acute, Cytogenetics, medicine.disease, Leukemia, Myeloid, Acute, Oncology, Myelodysplastic Syndromes, Pediatrics, Perinatology and Child Health, Immunology, Female, Chromosomes, Human, Pair 3, business
Published: 2003
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45. Carboplatin before and during radiation therapy for the treatment of malignant brain stem tumours

Author: Francoise Mechinaud, Claire Alapetite, J C Gentet, Eric Sariban, Véronique Mosseri, L De Lumley, Pascale Schneider, Chantal Kalifa, François Doz, Sylvia Neuenschwander, Pascal Chastagner, Jean-Michel Zucker, Dominique Plantaz, Eric Bouffet, and D. Bours
Subjects: Oncology, Cancer Research, medicine.medical_specialty, Poor prognosis, endocrine system diseases, medicine.medical_treatment, Central nervous system disease, chemistry.chemical_compound, Internal medicine, medicine, neoplasms, Chemotherapy, business.industry, organic chemicals, medicine.disease, female genital diseases and pregnancy complications, Carboplatin, Surgery, Radiation therapy, chemistry, Initial phase, business, therapeutics, Median survival, Chemoradiotherapy
Abstract: Childhood malignant brain stem tumours have a very poor prognosis with a median survival of 9 months despite radiotherapy. No chemotherapy has improved survival. However, carboplatin has been reported to have activity in glial tumours as well as antitumour synergy with radiation. Our aims were to test the response rate of these tumours to carboplatin alone and to evaluate the efficacy on survival of carboplatin alone followed by concurrent carboplatin and radiotherapy. Patients younger than 16 years with typical clinical and radiological presentation of infiltrating brain stem tumour, as well as histologically-documented cases in the atypical forms, were eligible. Two courses of carboplatin (1050 mg/m2 over 3 days) were administered initially. This treatment was followed by a chemoradiotherapy phase including five weekly carboplatin courses (200 mg/m2) and conventional radiotherapy. 38 eligible patients were included. No tumour response was observed after the initial phase. This schedule of first-line carboplatin followed by concurrent carboplatin and radiotherapy did not improve survival.
Published: 2002
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46. Isolated decrease in factor V in children treated by 6-Mercaptopurine for acute lymphoblastic Leukemia

Author: J P Vannier, Pascale Schneider, P. Van Dreden, C. Dumesnil, B. Filhon, and Marc Vasse
Subjects: Male, Antimetabolites, Antineoplastic, Hemostasis, biology, Adolescent, business.industry, Mercaptopurine, Lymphoblastic Leukemia, Factor V, Hematology, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Child, Preschool, Cancer research, biology.protein, Medicine, Humans, Female, business, Child, medicine.drug
Published: 2014

47. Detection of dicentric chromosome (9;20) in paediatric B-cell acute lymphoblastic leukaemia: prognostic significance

Author: Catherine Roche-Lestienne, Catherine Devoldere, Mathilde Letouzey, Brigitte Nelken, Jean-Pierre Vannier, Pascale Schneider, Dominique Penther, Centre de Lutte Contre le Cancer Henri Becquerel Normandie Rouen (CLCC Henri Becquerel), Service d'Hématologie Cellulaire [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'Hématologie-Oncologie Pédiatrique, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Micro-Environnement et Régulation Cellulaire Intégrée (MERCI), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Physiopathologie, Autoimmunité, maladies Neuromusculaires et THErapies Régénératrices (PANTHER), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pédiatrie médicale et médecine de l'adolescent [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), and Normandie Université (NU)
Subjects: Male, medicine.medical_specialty, Pediatrics, [SDV]Life Sciences [q-bio], Population, Karyotype, Chromosomes, Human, Pair 20, [SDV.CAN]Life Sciences [q-bio]/Cancer, Gastroenterology, 03 medical and health sciences, Dicentric chromosome, 0302 clinical medicine, Prednisone, hemic and lymphatic diseases, Internal medicine, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, education, Child, Survival rate, ComputingMilieux_MISCELLANEOUS, In Situ Hybridization, Fluorescence, 030304 developmental biology, Retrospective Studies, Chromosome Aberrations, 0303 health sciences, education.field_of_study, Hematology, medicine.diagnostic_test, business.industry, Infant, Retrospective cohort study, General Medicine, Prognosis, Minimal residual disease, 3. Good health, Chromosome Banding, Treatment Outcome, 030220 oncology & carcinogenesis, Child, Preschool, [SDV.IMM]Life Sciences [q-bio]/Immunology, Female, business, Chromosomes, Human, Pair 9, Fluorescence in situ hybridization, medicine.drug
Abstract: The dicentric chromosome (9;20) (dic(9;20)) is described in 2 % of childhood B-acute lymphoblastic leukaemia. Fluorescence in situ hybridization (FISH) is the most reliable method to identify dic(9;20) when compared with conventional cytogenetics. To define the prognostic importance of dic(9;20), we evaluated treatment response and patient survival. This was a retrospective study in three French university centres. Patients’ clinical and laboratory characteristics and treatment response are described. Nine children with dic(9;20) have been identified since 1995. All patients had at least one poor prognostic feature either among the clinical features, the initial laboratory results or in the initial treatment response: central nervous system involvement (2/9), high median leucocyte count (≥50 G/L) (8/9) and poor response to prednisone (2/9). All patients were in complete cytological remission after induction therapy but only three had a good molecular response with minimal residual disease (MRD)
Published: 2014
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48. Pancreatoblastoma in childhood: Clinical course and therapeutic management of seven patients

Author: Pascale Schneider, Patrick Boutard, E. Martin de Lassalle, Catherine Patte, Anne-Sophie Defachelles, and Brigitte Nelken
Subjects: Cancer Research, medicine.medical_specialty, Chemotherapy, Pancreatic disease, business.industry, medicine.medical_treatment, Pancreatoblastoma, Retrospective cohort study, medicine.disease, Surgery, Radiation therapy, Regimen, Oncology, Pediatrics, Perinatology and Child Health, Pancreatectomy, Medicine, business, Neoadjuvant therapy
Abstract: Background To analyze the clinical course of pancreatoblastoma in children and to propose management and therapy. Procedure Retrospective review of seven cases of pancreatoblastoma treated in France over a 20-year period and literature review. Results Median age of patients was 6 years. The tumor was well encapsulated in one patient and had direct extension to adjacent tissues in two others. Three patients had regional lymph node involvement and one had liver metastases. The tumor arose in the head of the pancreas in three children, in the tail and body in two and in the tail and in the body, one each. Elevation of AFP serum levels was noted in four out of 6 cases. Five tumor resections were performed, one initially and 4 after neoadjuvant chemotherapy, and cisplatin plus doxorubicin seemed effective. Two chidren received post-operative irradiation because of incomplete resection. In all, four children are disease free with a median follow-up of 50 months ( range, 5–120 months) : one had a complete removal of tumor at diagnosis and no further treatment, three had unresectable tumor at diagnosis and received neoadjuvant chemotherapy with cisplatin and doxorubicin. One of them also received post-operative irradiation. Conclusions Pancreatoblastoma is a curable tumor. Examination of serum AFP levels may be useful for diagnosis and to follow the course of the disease. Complete resection is the treatment of choice. However, tumor is often unresectable at diagnosis and preoperative chemotherapy is needed to reduce tumor volume. We suggest a regimen that include cisplatin and doxorubicin. In patients with incompletely resected disease, postoperative radiation may be indicated. Med. Pediatr. Oncol. 37:47–52, 2001. © 2001 Wiley-Liss, Inc.
Published: 2001
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49. Une découverte fortuite et tardive de maladie de Bruton

Author: Pauline Treguier, Aude Marie-Cardine, and Pascale Schneider
Subjects: Oncology, Pediatrics, Perinatology and Child Health, Hematology
Abstract: Introduction Un jeune homme de 17 ans est adresse en consultation d’immunologie pediatrique pour une decouverte fortuite d’hypogammaglobulinemie. Il est issu de parents caucasiens non consanguins, sans antecedents familiaux de dys-immunite. Il a presente, durant l’enfance, de nombreux episodes febriles, des otites frequentes et une ethmoidite sans sequelle, et des verrues resistantes aux traitements topiques. Materiels et methodes Un bilan sanguin a ete effectue a ses 4 ans retrouvant une hypogammaglobulinemie severe, banalisee devant un bon etat general, predominante sur les IgM ( Haemophilus influenzae et anti-pneumococcique. Aucun foyer profond n’est retrouve. Resultats Devant une forte suspicion de deficit immunitaire hereditaire, une recherche genetique est faite et retrouve une mutation faux sens sur l’exon 2 du gene BTK entrainant la production d’une proteine de Bruton deletere. La maladie de Bruton ou agammaglobulinemie liee a l’X est un deficit de l’immunite hereditaire se manifestant dans les deux premieres annees de vie, chez les garcons, par des infections des voies aeriennes recidivantes a germes extracellulaires. Elle est due a un deficit en Bruton Proteine Kinase entrainant une hypogammaglobulinemie profonde avec une absence de lymphocyte B circulants, plusieurs mutations ont ete decrites. Discussion Plusieurs cas de diagnostic tardif, paucisymptomatique, ont ete decrits dans la litterature [1] , la penetrance variable de la maladie de Bruton est-elle fonction de la mutation causale ? Faut-il supplementer ses patients ? Faut-il proposer une enquete genetique familiale ?
Published: 2016
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50. Use of Recombinant Human Granulocyte Colony-Stimulating Factor to Increase Chemotherapy Dose-Intensity: A Randomized Trial in Very High-Risk Childhood Acute Lymphoblastic Leukemia

Author: E. Legall, Anne Auvrignon, Christian Berthou, Gérard Michel, Yves Perel, André Baruchel, Guy Leverger, F. Demeocq, F. Bauduer, Pascale Schneider, Brigitte Pautard, Pierre Bordigoni, C. Mathey, Jean-Pierre Lamagnere, Marie-Françoise Auclerc, Schaison G, Judith Landman-Parker, and Thierry Leblanc
Subjects: Male, Oncology, Cancer Research, medicine.medical_specialty, Vincristine, Neutropenia, Adolescent, Cyclophosphamide, Dexamethasone, Acute lymphocytic leukemia, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, Granulocyte Colony-Stimulating Factor, medicine, Humans, Child, Childhood Acute Lymphoblastic Leukemia, Etoposide, Dose-Response Relationship, Drug, business.industry, Cytarabine, Infant, Newborn, Infant, Consolidation Chemotherapy, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Thrombocytopenia, Recombinant Proteins, Surgery, Granulocyte colony-stimulating factor, Methotrexate, Treatment Outcome, Doxorubicin, Child, Preschool, Absolute neutrophil count, Prednisone, Female, business, medicine.drug
Abstract: PURPOSE: To determine whether the use of a recombinant human granulocyte colony-stimulating factor ([G-CSF] lenogastrim) can increase the chemotherapy dose-intensity (CDI) delivered during consolidation chemotherapy of childhood acute lymphoblastic leukemia (ALL). PATIENTS AND METHODS: Sixty-seven children with very high-risk ALL were randomized (slow early response to therapy, 55 patients; translocation t(9;22) or t(4;11), 12 patients). Consolidation consisted of six courses of chemotherapy; the first, third, and fifth courses were a combination of high-dose cytarabine, etoposide, and dexamethasone (R3), whereas the second, fourth, and sixth courses included vincristine, prednisone, cyclophosphamide, doxorubicin, and methotrexate (COPADM). G-CSF was given after each course, and the next scheduled course was started as soon as neutrophil count was > 1 × 109/L and platelet count was > 100 × 109/L. CDI was calculated using the interval from day 1 of the first course to hematologic recovery after the fifth course (100% CDI = 105-day interval). RESULTS: CDI was significantly increased in the G-CSF group compared with the non–G-CSF group (mean ± 95% confidence interval, 105 ± 5% v 91 ± 4%; P < .001). This higher intensity was a result of shorter post-R3 intervals in the G-CSF group, whereas the post-COPADM intervals were not statistically reduced. After the R3 courses, the number of days with fever and intravenous antibiotics and duration of hospitalization were significantly decreased by G-CSF, whereas reductions observed after COPADM were not statistically significant. Duration of granulocytopenia was reduced in the G-CSF group, but thrombocytopenia was prolonged, and the number of platelet transfusions was increased. Finally, the 3-year probability of event-free survival was not different between the two groups. CONCLUSION: G-CSF can increase CDI in high-risk childhood ALL. Its effects depend on the chemotherapy regimen given before G-CSF administration. In our study, a higher CDI did not improve disease control.
Published: 2000
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