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1. Pubertal development of transfusion-dependent thalassemia patients in the era of oral chelation with deferasirox: results from the French registry

Author: Mathilde Veneziano Broccia, Julia Vergier, Audrey Benoit, Yoann Huguenin, Anne Lambilliotte, Marie Pierre Castex, Stephanie Gourdon, Ghislaine Ithier, Kamila Kebaili, Pierre Rohrlich, Corinne Pondarre, Abdourahim Chamouine, Pauline Simon, Kokou Placide Agbo Kpati, Slimane Allali, Sandrine Baron-Joly, Sophie Bayart, Nicolas Billaud, Valentine Brousse, Cecile Dumesnil, Nathalie Garnier, Isabelle Guichard, Laure Joseph, Annie Kamdem, Julie Maitre, Catherine Mathey, Catherine Paillard, Aurelie Phulpin, Cecile Renard, Cecile Stoven, Mohamed Touati, Capucine Trochu, Suzanne Mathieu Nafissi, Catherine Badens, Sarah Szepetowski, and Isabelle Thuret
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Abstract: Not available.
Published: 2024
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2. P1451: PUBERTAL DEVELOPMENT OF TRANSFUSION DEPENDENT THALASSEMIA PATIENTS AT THE ERA OF ORAL CHELATION WITH DEFERASIROX: RESULTS OF THE FRENCH NATIONAL REGISTRY NATHALY

Author: Mathilde Veneziano, Audrey Benoit, Yoann Huguenin, Anne Lambilliotte, Marie-Pierre Castex, Stephanie Gourdon, Ghislaine Ithier, Kamila Kebaili, Pierre-Simon Rohrlich, Corinne Pondarre, Abdourahim Chamouine, Pauline Simon, Placide Agbo-Kpati-Kokou, Slimane Allali, Sandrine Baron-Joly, Sophie Bayart, Nicolas Billaud, Valentine Brousse, Cecile Dumesnil, Nathalie Garnier, Isabelle Guichard, Laure Joseph, Annie Kamdem, Julie Maitre, Catherine Mathey, Catherine Paillard, Aurélie Phulpin, Cécile Renard, Cecile Stoven, Mohamed Touati, Capucine Trochu, Suzanne Mathieu, Julia Vergier, Catherine Badens, Szepetowski Sarah, and Isabelle Thuret
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Published: 2023
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3. Profound and sustained response with next-generation ALK inhibitors in patients with relapsed or progressive ALK-positive anaplastic large cell lymphoma with central nervous system involvement

Author: Charlotte Rigaud, Samuel Abbou, Stephane Ducassou, Mathieu Simonin, Lou Le Mouel, Victor Pereira, Stephanie Gourdon, Anne Lambilliotte, Birgit Geoerger, Veronique Minard-Colin, and Laurence Brugieres
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Published: 2022
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4. Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study

Author: Solenne Le Louet, Mohamed-Aziz Barkaoui, Jean Miron, Claire Galambrun, Nathalie Aladjidi, Pascal Chastagner, Kamila Kebaili, Corinne Armari-Alla, Anne Lambilliotte, Julien Lejeune, Despina Moshous, Valeria Della Valle, Chiara Sileo, Hubert Ducou Le Pointe, Jean-François Chateil, Sylvain Renolleau, Jean-Eudes Piloquet, Aurelie Portefaix, Ralph Epaud, Raphaël Chiron, Emmanuelle Bugnet, Gwenaël Lorillon, Abdelatif Tazi, Jean-François Emile, Jean Donadieu, and Sébastien Héritier
Subjects: Childhood, Pulmonary, Langerhans cell histiocytosis, Targeted therapy, Intensive care, Severe, Medicine
Abstract: Abstract Background Lung involvement in childhood Langerhans cell histiocytosis (LCH) is infrequent and rarely life threatening, but occasionally, severe presentations are observed. Methods Among 1482 children (
Published: 2020
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5. Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience

Author: Ilhem Rahal, Claire Galambrun, Yves Bertrand, Nathalie Garnier, Catherine Paillard, Pierre Frange, Corinne Pondarré, Jean Hugues Dalle, Regis Peffault de Latour, Mauricette Michallet, Dominique Steschenko, Despina Moshous, Patrick Lutz, Jean Louis Stephan, Pierre Simon Rohrlich, Ibrahim Yakoub-Agha, Françoise Bernaudin, Christophe Piguet, Nathalie Aladjidi, Catherine Badens, Claire Berger, Gérard Socié, Cécile Dumesnil, Marie Pierre Castex, Marilyne Poirée, Anne Lambilliotte, Caroline Thomas, Pauline Simon, Pascal Auquier, Gérard Michel, Anderson Loundou, Imane Agouti, and Isabelle Thuret
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Abstract: In this retrospective study, we evaluate long-term complications in nearly all β-thalassemia-major patients who successfully received allogeneic hematopoietic stem cell transplantation in France. Ninety-nine patients were analyzed with a median age of 5.9 years at transplantation. The median duration of clinical follow up was 12 years. All conditioning regimens were myeloablative, most were based on busulfan combined with cyclophosphamide, and more than 90% of patients underwent a transplant from a matched sibling donor. After transplantation, 11% of patients developed thyroid dysfunction, 5% diabetes, and 2% heart failure. Hypogonadism was present in 56% of females and 14% of males. Female patients who went on to normal puberty after transplant were significantly younger at transplantation than those who experienced delayed puberty (median age 2.5 vs. 8.7 years). Fertility was preserved in 9 of 27 females aged 20 years or older and 2 other patients became pregnant following oocyte donation. In addition to patient’s age and higher serum ferritin levels at transplantation, time elapsed since transplant was significantly associated with decreased height growth in multivariate analysis. Weight growth increased after transplantation particularly in females, 36% of adults being overweight at last evaluation. A comprehensive long-term monitoring, especially of endocrine late effects, is required after hematopoietic stem cell transplantation for thalassemia.
Published: 2018
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6. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

Author: Jean Donadieu, Odile Fenneteau, Blandine Beaupain, Sandrine Beaufils, Florence Bellanger, Nizar Mahlaoui, Anne Lambilliotte, Nathalie Aladjidi, Yves Bertrand, Valérie Mialou, Christine Perot, Gérard Michel, Fanny Fouyssac, Catherine Paillard, Virginie Gandemer, Patrick Boutard, Jacques Schmitz, Alain Morali, Thierry Leblanc, Christine Bellanné-Chantelot, and the associated investigators of the French Severe Chronic Neutropenia Registry
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Abstract: Background Patients with the Shwachman-Diamond syndrome often develop hematologic complications. No risk factors for these complications have so far been identified. The aim of this study was to classify the hematologic complications occurring in patients with Shwachman-Diamond syndrome and to investigate the risk factors for these complications.Design and Methods One hundred and two patients with Shwachman-Diamond syndrome, with a median follow-up of 11.6 years, were studied. Major hematologic complications were considered in the case of definitive severe cytopenia (i.e. anemia
Published: 2012
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7. A novel (ɛγδβ)°-thalassemia deletion associated with an α globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome

Author: Christian Rose, Julien Rossignol, Anne Lambilliotte, Sandrine Depret, Nathalie Le Metayer, and Serge Pissard
Subjects: Diseases of the blood and blood-forming organs, RC633-647.5
Published: 2009
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8. Childhood Langerhans cell histiocytosis with severe lung involvement: a nationwide cohort study

Author: Ralph Epaud, Chiara Sileo, Mohamed Barkaoui, Kamila Kebaili, Aurélie Portefaix, Jean-François Emile, Jean Eudes Piloquet, Jean-François Chateil, Solenne Le Louet, Abdellatif Tazi, Sébastien Héritier, Nathalie Aladjidi, Valeria Della Valle, Corinne Armari-Alla, Philippe B. Chastagner, Claire Galambrun, Gwenaël Lorillon, Jean Miron, Despina Moshous, Sylvain Renolleau, Julien Lejeune, Hubert Ducou Le Pointe, Emmanuelle Bugnet, Raphael Chiron, J. Donadieu, Anne Lambilliotte, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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), CHU Bordeaux [Bordeaux], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL), Hôpital la Tronche, Service d'endocrinologie pédiatrique [CHU Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Service d'immuno-hématologie 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), Hôpital Haut-Lévêque [CHU Bordeaux], Service de Transplantation Rénale et de Soins Intensifs [Hôpital Necker - APHP], Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Intercommunal de Créteil (CHIC), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hopital Saint-Louis [AP-HP] (AP-HP), Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay
Subjects: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, lcsh:Medicine, Vinblastine, Asymptomatic, law.invention, Cohort Studies, Targeted therapy, 03 medical and health sciences, 0302 clinical medicine, Langerhans cell histiocytosis, law, Intensive care, Medicine, Lung transplantation, Humans, Pharmacology (medical), Child, Lung, Genetics (clinical), Retrospective Studies, Childhood Langerhans Cell Histiocytosis, [SDV.GEN]Life Sciences [q-bio]/Genetics, Severe, business.industry, Research, lcsh:R, Infant, Retrospective cohort study, General Medicine, Pulmonary, medicine.disease, Intensive care unit, Childhood, 3. Good health, Histiocytosis, Langerhans-Cell, 030228 respiratory system, Pneumothorax, 030220 oncology & carcinogenesis, medicine.symptom, business
Abstract: BackgroundLung involvement in childhood Langerhans cell histiocytosis (LCH) is infrequent and rarely life threatening, but occasionally, severe presentations are observed.MethodsAmong 1482 children (ResultsThe median age was 1.3 years at the first ICU hospitalization. Of the 17 patients, 14 presented with lung involvement at the LCH diagnosis, and 7 patients (41%) had concomitant involvement of risk-organ (hematologic, spleen, or liver). Thirty-five ICU hospitalizations were analysed. Among these, 22 (63%) were secondary to a pneumothorax, 5 (14%) were associated with important cystic lesions without pneumothorax, and 8 (23%) included a diffuse micronodular lung infiltration in the context of multisystem disease.First-line vinblastine–corticosteroid combination therapy was administered to 16 patients; 12 patients required a second-line therapy (cladribine:n = 7; etoposide-aracytine:n = 3; targeted therapyn = 2). A total of 6 children (35%) died (repeated pneumothorax:n = 3; diffuse micronodular lung infiltration in the context of multisystem disease:n = 2; following lung transplantation:n = 1). For survivors, the median follow-up after ICU was 11.2 years. Among these, 9 patients remain asymptomatic despite abnormal chest imaging.ConclusionsSevere lung involvement is unusual in childhood LCH, but it is associated with high mortality. Treatment guidelines should be improved for this group of patients: viral infection prophylaxis and early administration of a new LCH therapy, such as targeted therapy.
Published: 2020
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9. De novo missense variants in the <scp> RAP1B </scp> gene identified in two patients with syndromic thrombocytopenia

Author: Anna Raimbault, Susanne Morlot, Chen Du, Tim Ripperger, Gunnar Schmidt, Thomas Smol, Winfried Hofmann, Bernd Auber, Doris Steinemann, Gudrun Göhring, Anne Lambilliotte, Brigitte Schlegelberger, Emilie Ait-Yahya, Florence Petit, Jan Hendrik Niemann, and Beate Kaune
Subjects: Adult, Male, 0301 basic medicine, Heterozygote, Microcephaly, Adolescent, Mutation, Missense, 030105 genetics & heredity, Biology, Germline, 03 medical and health sciences, Intellectual Disability, Exome Sequencing, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Exome, MULTIPLE MALFORMATIONS, Child, Genetics (clinical), Exome sequencing, medicine.disease, RAP1B gene, Thrombocytopenia, Pancytopenia, Pedigree, Phenotype, rap GTP-Binding Proteins, 030104 developmental biology, Child, Preschool, Female, Kabuki syndrome
Abstract: We present two independent cases of syndromic thrombocytopenia with multiple malformations, microcephaly, learning difficulties, dysmorphism and other features. Exome sequencing identified two novel de novo heterozygous variants in these patients, c.35G>T p.(Gly12Val) and c.178G>C p.(Gly60Arg), in the RAP1B gene (NM_001010942.2). These variants have not been described previously as germline variants, however functional studies in literature strongly suggest a clinical implication of these two activating hot spot positions. We hypothesize that pathogenic missense variants in the RAP1B gene cause congenital syndromic thrombocytopenia with a spectrum of associated malformations and dysmorphism, possibly through a gain of function mechanism.
Published: 2020
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10. Epstein-Barr Virus in Childhood and Adolescent Classic Hodgkin Lymphoma in a French Cohort of 301 Patients

Author: Victor Pereira, Sabah Boudjemaa, Caroline Besson, Thierry Leblanc, Charlotte Rigaud, Amaury Leruste, Nathalie Garnier, Anne Lambilliotte, Matthieu Simonin, Catherine Curtillet, Jacinthe Bonneau-Lagacherie, Aurore Coulomb, and Judith Landman-Parker
Subjects: Male, Herpesvirus 4, Human, Epstein-Barr Virus Infections, Oncology, Adolescent, Lymphoma, Non-Hodgkin, Pediatrics, Perinatology and Child Health, Humans, Hematology, Child, Hodgkin Disease, Immunohistochemistry, In Situ Hybridization
Abstract: The aim was to analyze the role of Epstein-Barr virus (EBV) in the bioclinical characteristics of patients treated for classic Hodgkin lymphoma (cHL) in France.Biopathologic data of 301 patients treated for a cHL in/or according to the EuroNet PHL-C1 trial between November 2008 and February 2013 were centrally reviewed.Median age at diagnosis was 14 (3 to 18) years and the F/M ratio 0.86, 0.47 before 10 years and 0.9 from 11 to 18. CHL subtypes were nodular sclerosis for 266/301 (88%) patients, mixed cellularity for 22/301 (7%), lymphocyte rich for 2/301 (1%), and 11/301 were unclassified. EBV positivity by in situ hybridization was observed for 68/301 (23%) patients, significantly associated with mixed cellularity subtype and male sex, particularly overrepresented in boys below 10 years: 15/23 (65%) versus 28/139 among other male patients (20%). EBV viral load was detectable in 22 of 108 (22%) tested cases and was overrepresented in EBV cHL (13/28) versus non-EBV cHL (9/80) patients. Detailed semiquantitative histologic analysis showed a high number of B-cell residual follicles in EBV cHL relative to EBV-negative HL.Distribution of EBV cHL in children and adolescents is associated with young age and male sex, suggesting a specific physiopathology and may require a differential therapeutic approach.
Published: 2021

11. Abatacept is useful in autoimmune cytopenia with immunopathologic manifestations caused by CTLA-4 defects

Author: Chloé Dhunputh, Frédéric Rieux-Laucat, Capucine Picard, Judith Landman-Parker, Benedicte Neven, Stéphane Ducassou, Alexandra Gauthier, Helder Fernandes, Jean-François Viallard, Nathalie Aladjidi, Estibaliz Lazaro, Marion Malphettes, Nathalie Garnier, Mathieu Jouvray, Guy Leverger, Thierry Leblanc, Anne Lambilliotte, Irène Machelart, Despina Moshous, and Hermine Olivier
Subjects: Adult, Male, Adolescent, Immunology, Auto immune, Biochemistry, Autoimmune Diseases, Abatacept, Young Adult, medicine, Humans, CTLA-4 Antigen, Child, Immune Checkpoint Inhibitors, Cytopenia, business.industry, Cell Biology, Hematology, medicine.disease, Thrombocytopenia, CTLA-4, Child, Preschool, Female, Anemia, Hemolytic, Autoimmune, business, medicine.drug
Published: 2021

12. Childhood pulmonary Langerhans cell histiocytosis: a comprehensive clinical-histopathological and BRAFV600E mutation study from the French national cohort

Author: Jean Donadieu, Jean-François Bernaudin, Marjorie Piche, Christophe Piguet, Jean-François Emile, Aurore Coulomb-L'Hermine, Jean-Christophe Sabourin, Anne Lambilliotte, Anne Rullier, François Paraf, Isabelle Serre, Hugues Begueret, Véronique Secq, Chiara Sileo, Valeria Della Valle, Marianne Kambouchner, Marie-Christine Copin, Hubert Ducou Le Pointe, and Louise Galmiche
Subjects: 0301 basic medicine, medicine.medical_specialty, Pathology, Lung, Langerhans cell, business.industry, Interstitial lung disease, Scars, Histology, medicine.disease, Pathology and Forensic Medicine, 03 medical and health sciences, Histiocytosis, 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Medicine, Histopathology, medicine.symptom, business, Rare disease
Abstract: Childhood pulmonary Langerhans cell histiocytosis (PLCH) is a rare disease. Its pulmonary histopathology, according to comprehensive clinical-radiological findings and BRAFV600E mutation status, has not yet been thoroughly documented. From the 167 childhood PLCH cases entered in the French National Histiocytosis Registry (1983-2016), we retrieved lung biopsies from a consecutive retrospective series of 17 patients, diagnosed when they were 2 weeks to 16 years old (median, 9.4 years), and report the clinical and histopathological findings herein. Histological analyses of biopsies (16 surgical and 1 postmortem) found the following features, alone or associated: Langerhans cell (LC) nodules with cavitation (9/17), cysts (14/17), fibrotic scars (2/17), peribronchiolar topographic distribution of the lesions (10/17), and accessory changes, like stretch emphysema (7/17). Those characteristics closely resemble those describing adult PLCH. However, unusual findings observed were 2 large nodules and a diffuse interstitial LC infiltrate. BRAFV600E mutation was detected in 4 of 12 samples tested, notably in the 3 with unusual features. In conclusion, childhood PLCH mostly shares the common histology features already described in adult PLCH, regardless of age. Because smoking is considered the major trigger in PLCH pathogenesis, the findings based on this series suggest other inducers of bronchiolar LC recruitment, especially in very young patients.
Published: 2019
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13. Should treatment of ALK-positive anaplastic large cell lymphoma be stratified according to minimal residual disease?

Author: Nathalie Aladjidi, Anne Lambilliotte, Thierry Leblanc, Mylène Duplan, Nathalie Garnier, Marie-Laure Couec, David Grand, Veronique Minard-Colin, Laurence Lamant, Geneviève Plat, Nimrod Buchbinder, Claudine Schmitt, Rachid Abbas, Charlotte Rigaud, and Laurence Brugières
Subjects: Oncology, ALK-Positive Anaplastic Large Cell Lymphoma, medicine.medical_specialty, Neoplasm, Residual, medicine.medical_treatment, Antineoplastic Agents, behavioral disciplines and activities, 03 medical and health sciences, 0302 clinical medicine, hemic and lymphatic diseases, Internal medicine, mental disorders, Medicine, Anaplastic lymphoma kinase, Humans, Anaplastic Lymphoma Kinase, Anaplastic large-cell lymphoma, Chemotherapy, business.industry, Hematology, medicine.disease, Minimal residual disease, Progression-Free Survival, body regions, 030220 oncology & carcinogenesis, Pediatrics, Perinatology and Child Health, Cohort, Minimal Disseminated Disease, Lymphoma, Large-Cell, Anaplastic, business, 030215 immunology
Abstract: In anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALK+ ALCL), positive minimal residual disease (MRD+) after the first chemotherapy course was proven of strong prognostic significance. We aimed to validate these results in 138 French patients. Eighty-seven patients had a detectable minimal disseminated disease at diagnosis (MDD+). Early MRD assessment was performed in 33 of 87 patients and was positive in 18 and negative in 15 (MRD-). Three-year progression-free survival was significantly correlated with the MDD/MRD status: 81.1% in MDD-, 69.6% in MDD+/MRD-, and 15.2% in MDD+/MRD+ patients. In conclusion, we confirmed on an independent cohort that the MDD/MRD status has strong prognosis significance in ALK+ ALCL.
Published: 2021

14. Author response for 'De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia'

Author: Chen Du, Gunnar Schmidt, Beate Kaune, Brigitte Schlegelberger, Gudrun Göhring, Florence Petit, Jan Hendrik Niemann, Doris Steinemann, Bernd Auber, Thomas Smol, Anne Lambilliotte, Tim Ripperger, Emilie Ait-Yahya, Winfried Hofmann, Anna Raimbault, and Susanne Morlot
Subjects: Genetics, business.industry, Missense mutation, Medicine, RAP1B gene, business
Published: 2020
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15. Maternal exposure to pesticides and risk of childhood lymphoma in France: A pooled analysis of the ESCALE and ESTELLE studies (SFCE)

Author: Audrey Bonaventure, Yves Bertrand, Laure Faure, Charlotte Rigaud, Jacqueline Clavel, Hélène Pacquement, Sandra Mavoungou, Laurent Orsi, Marie Nolla, Anne Lambilliotte, Mathieu Simonin, and Paula Rios
Subjects: Adult, Male, Cancer Research, medicine.medical_specialty, Adolescent, Lymphoma, Epidemiology, Population, Logistic regression, 03 medical and health sciences, 0302 clinical medicine, immune system diseases, Pregnancy, hemic and lymphatic diseases, Internal medicine, Occupational Exposure, medicine, Humans, 030212 general & internal medicine, Registries, Pesticides, education, Child, education.field_of_study, Childhood Lymphoma, business.industry, Confounding, Case-control study, Infant, Newborn, Infant, Odds ratio, medicine.disease, Oncology, Maternal Exposure, 030220 oncology & carcinogenesis, Case-Control Studies, Child, Preschool, Prenatal Exposure Delayed Effects, Female, France, business
Abstract: Background Few studies have assessed the relation between maternal prenatal pesticides use and childhood lymphoma risk, some reporting a positive association with non-Hodgkin lymphoma (NHL). We investigated the association between maternal exposure to pesticides during pregnancy and childhood Hodgkin (HL) and non-Hodgkin lymphoma. Methods We pooled data from the two French national population-based case-control studies ESCALE (2003-2004) and ESTELLE (2010-2011). Data on domestic and occupational exposures to pesticides during pregnancy were obtained through standardised maternal interviews. Logistic regression models were used to compute odds ratios (OR) and 95% confidence intervals (CI) for HL and NHL, by pesticide category adjusted for potential confounders. Analyses by histological subtypes were also performed. Results We included 328 H L, 305 non-Hodgkin NHL and 2,415 controls. Around 40% of control mothers reported having used pesticides during index pregnancy, of whom 95% reported insecticides use. Maternal use of herbicides and fungicides occurred mostly in combination with insecticides. Insecticides use was more frequently reported in cases than controls (ORNHL = 1.6 [95%CI 1.3–2.1], p = 0.0001; ORHL = 1.3 [95%CI 1.0–1.7], p = 0.03). This association appeared more marked for Burkitt lymphoma and mixed cellularity classical HL. No obvious association was observed with occupational pesticides exposure during pregnancy. Conclusion These results suggest that maternal domestic use of insecticides during pregnancy might be related to both childhood NHL and HL. Further larger studies are urgently needed.
Published: 2020

16. Baseline dysmegakaryopoiesis in inherited thrombocytopenia/platelet disorder with predisposition to haematological malignancies

Author: Marc Fouassier, Nathalie Trillot, Claude Preudhomme, Véronique Tintiller, Coralie Derrieux, Elise Fournier, Céline Berthon, Nicolas Duployez, Camille Debord, Soraya Wuilleme, Valérie Soenen, Thomas Boyer, Louis Terriou, Camille Paris, Fanny Gonzales, Sophie Susen, Anne Lambilliotte, Pierre Boisseau, Wadih Abou Chahla, Hôpital Claude Huriez [Lille], CHU Lille, Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Service d'Hématologie Cellulaire [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), 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), Service d'immuno-hématologie 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), Hôpital Jeanne de Flandre [Lille], Récepteurs Nucléaires, Maladies Métaboliques et Cardiovasculaires - U1011 (RNMCD), 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), 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), Centre Hospitalier Universitaire de Lille (CHU de Lille), Recherche clinique appliquée à l'hématologie ((EA_3518)), Université Paris Diderot - Paris 7 (UPD7), Service d'Hématologie Biologique [CHU Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Centre Régional de Traitement des Hémophiles [CHU Nantes], DESSAIVRE, Louise, and Récepteurs Nucléaires, Maladies Métaboliques et Cardiovasculaires (RNMCD - U1011)
Subjects: Adult, Male, medicine.medical_specialty, Adolescent, business.industry, Platelet disorder, [SDV]Life Sciences [q-bio], MEDLINE, Infant, Hematology, Middle Aged, Gastroenterology, Thrombocytopenia, [SDV] Life Sciences [q-bio], Internal medicine, Hematologic Neoplasms, medicine, Humans, Female, Genetic Predisposition to Disease, Blood Platelet Disorders, Baseline (configuration management), business, ComputingMilieux_MISCELLANEOUS, Germ-Line Mutation
Abstract: International audience
Published: 2020
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17. 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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18. Childhood pulmonary Langerhans cell histiocytosis: a comprehensive clinical-histopathological and BRAF

Author: Marianne, Kambouchner, Jean-François, Emile, Marie-Christine, Copin, Aurore, Coulomb-Lherminé, Jean-Christophe, Sabourin, Valeria, Della Valle, Chiara, Sileo, Hubert, Ducou Le Pointe, Hugues, Bégueret, Louise, Galmiche, Anne, Lambilliotte, François, Paraf, Marjorie, Piche, Christophe, Piguet, Anne, Rullier, Véronique, Secq, Isabelle, Serre, Jean-François, Bernaudin, and Jean, Donadieu
Subjects: Lung Diseases, Male, Proto-Oncogene Proteins B-raf, Adolescent, Infant, Newborn, Infant, Cohort Studies, Histiocytosis, Langerhans-Cell, Child, Preschool, Mutation, Humans, Female, France, Child, Retrospective Studies
Abstract: Childhood pulmonary Langerhans cell histiocytosis (PLCH) is a rare disease. Its pulmonary histopathology, according to comprehensive clinical-radiological findings and BRAF
Published: 2019

19. LethalALAS2mutation in males X-linked sideroblastic anaemia

Author: Anne Lambilliotte, Isabelle Callebaut, Christian Rose, Caroline Kannengiesser, Laurent Pascal, Claire Oudin, Laurent Gouya, and Martine Fournier
Subjects: 0301 basic medicine, Genetics, business.industry, Hematology, Bioinformatics, ALAS2, X-linked sideroblastic anaemia, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Mutation (genetic algorithm), Medicine, business, 030215 immunology
Published: 2016
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20. Incidence and risk factors for clinical neurodegenerative Langerhans cell histiocytosis: a longitudinal cohort study

Author: Nathalie Aladjidi, Jean-François Emile, Frédéric Millot, Kamila Kebaili, Laurence Brugières, Valérie Taly, Anne Lutun, Catherine Paillard, Mohamed-Aziz Barkaoui, Julien Haroche, Zofia Hélias-Rodzewicz, Claire Galambrun, Fleur Cohen-Aubart, Hélène Pacquement, Jean Miron, Guy Leverger, Eric Jeziorski, Françoise Mazingue, Anne Pagnier, Marion Gillibert-Yvert, Anne Deville, Jean-Louis Stephan, Anne Lambilliotte, Nadine Martin-Duverneuil, Isabelle Pellier, Ahmed Idbaih, Geneviève Plat, Virginie Gandemer, Sébastien Héritier, Caroline Thomas, Jean Donadieu, Khê Hoang-Xuan, Despina Moshous, Ludovic Mansuy, Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital mère et enfant, Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'hématologie pédiatrique-oncologie, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut d’Hémato-Oncologie Pédiatrique, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Toulouse [Toulouse], Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, Institut Curie [Paris], Service d'Hématologie pédiatrique, Hôpital de la Timone, Marseille, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre Hospitalier Universitaire de Nice (CHU Nice), Service Immuno Hémato-Onco Pédiatrique, CHU Grenoble, CHU Amiens-Picardie, CHU Trousseau [Tours], Service d'hématologie pédiatrique, CHU Saint-Etienne, 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], 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 en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Jean Bernard, 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), Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière (CRICM), 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), Médecine Personnalisée, Pharmacogénomique, Optimisation Thérapeutique (MEPPOT - U1147), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Equipe labellisée Ligue contre le Cancer, Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Biologie des Interactions Neurones / Glie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Sorbonne Université - Département de neurologie 2 - Mazarin, Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Molecular analysis of LCH samples was supported by a grant (#11413) from the Conquer Cancer Foundation ASCO Young Investigator Award, supported by the Strike 3 Foundation. This study received grants from the Société Française de lutte contre les Cancers de l’Enfant et de l’Adolescent, Fédération Enfants et Santé, Association Recherche et Maladie Hématologiques de l’Enfant, Association Les 111 des Arts de Paris, Association la Petite Maison dans la Prairie. This project received constant 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 from the Gardrat Family. This study was based on research from the Centre de Reference des Histiocytoses (www.histiocytose.org)., Service d'Onco-neurologie = Département de neurologie 2 [CHU Pitié Salpêtrière], TALY, Valerie, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de médecine de l'enfant et de l'adolescent [CHU Rennes], and CHU Pontchaillou [Rennes]
Subjects: Male, Pituitary gland, Pediatrics, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], [SDV.CAN]Life Sciences [q-bio]/Cancer, Disease, BRAF, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, Langerhans cell histiocytosis, Risk Factors, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Medicine, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Cumulative incidence, Longitudinal Studies, Registries, Longitudinal cohort, Child, business.industry, Incidence (epidemiology), Incidence, neurodegeneration, Infant, Newborn, Infant, Neurodegenerative Diseases, Hematology, medicine.disease, 3. Good health, [SDV] Life Sciences [q-bio], Histiocytosis, Langerhans-Cell, medicine.anatomical_structure, Bone lesion, 030220 oncology & carcinogenesis, Child, Preschool, Female, histiocytosis, business, Previously treated, 030215 immunology, Follow-Up Studies
Abstract: International audience; Neurodegenerative (ND) complications in Langerhans cell histiocytosis (LCH) are a late-onset but dramatic sequelae for which incidence and risk factors are not well defined. Based on a national prospective registry of paediatric LCH patients, we determined the incidence rate of clinical ND LCH (cND-LCH) and analysed risk factors, taking into account disease extent and molecular characteristics. Among 1897 LCH patients, 36 (1·9%) were diagnosed with a cND-LCH. The 10-year cumulative incidence of cND-LCH was 4·1%. cND-LCH typically affected patients previously treated for a multisystem, risk organ-negative LCH, represented in 69·4% of cND-LCH cases. Pituitary gland, skin and base skull/orbit bone lesions were more frequent (P < 0·001) in cND-LCH patients compared to those without cND-LCH (respectively 86·1% vs. 12·2%, 75·0% vs. 34·2%, and 63·9% vs. 28·4%). The 'cND susceptible patients' (n = 671) i.e., children who had experienced LCH disease with pituitary or skull base or orbit bone involvement, had a 10-year cND risk of 7·8% vs. 0% for patients who did not meet these criteria. Finally, BRAFV 600E status added important information among these cND susceptible patients, with the 10-year cND risk of 33·1% if a BRAFV 600E mutation was present compared to 2·9% if it was absent (P = 0·002).
Published: 2018
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21. Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experience

Author: Nathalie Aladjidi, Marilyne Poirée, Catherine Paillard, Ilhem Rahal, Claire Galambrun, Imane Agouti, Mauricette Michallet, Pauline Simon, Yves Bertrand, Dominique Steschenko, Ibrahim Yakoub-Agha, Pascal Auquier, Régis Peffault de Latour, Marie Pierre Castex, Isabelle Thuret, Nathalie Garnier, Catherine Badens, Caroline Thomas, Corinne Pondarré, Gérard Michel, Patrick Lutz, Anderson Loundou, Pierre-Simon Rohrlich, Jean Hugues Dalle, Christophe Piguet, Jean Louis Stephan, Despina Moshous, Pierre Frange, Claire Berger, Gérard Socié, Françoise Bernaudin, Anne Lambilliotte, Cécile Dumesnil, TAN, Yossan-Var, Aix-Marseille Université - Faculté de médecine (AMU MED), Aix Marseille Université (AMU), Service d'Hématologie pédiatrique, Hôpital de la Timone, Marseille, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL), 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'immuno-hématologie 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), CHI Créteil, Unité d'Hémato-Immunologie pédiatrique [Hôpital Robert Debré, Paris], Service d'Immuno-hématologie pédiatrique [Hôpital Robert Debré, Paris], Hôpital Robert Debré-Hôpital Robert Debré, Hopital Saint-Louis [AP-HP] (AP-HP), Service d'hématologie [Hôpital Edouard Herriot - HCL], Hôpital Edouard Herriot [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH), Service de pédiatrie, CHU Grenoble, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Service d'hématologie, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Unités d'Activité Médicale [Lille] (UAM), Hôpital Claude Huriez [Lille], CHU Lille-CHU Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service de Pédiatrie médicale - Spécialités médicales [CHU Limoges], CHU Limoges, Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, Centre de référence maladie rare Thalassémie, Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), CHU Rouen, 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'Allergologie et d'Immunologie [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hopital L'Archet-II, Service d'hématologie pédiatrique-oncologie, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU de Nantes, CHU Pointe-à-Pitre/Abymes [Guadeloupe], Centre d'études et de recherche sur les services de santé et la qualité de vie (CEReSS), Franche-Comté Électronique Mécanique, Thermique et Optique - Sciences et Technologies (UMR 6174) (FEMTO-ST), Université de Technologie de Belfort-Montbeliard (UTBM)-Ecole Nationale Supérieure de Mécanique et des Microtechniques (ENSMM)-Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Hôpital de la Timone [CHU - APHM] (TIMONE), AORC APHM 2011 (Appel d’Offre de Recherche Clinique), Service d'Allergologie et d'Immunologie [CHRU Toulouse], CHRU Toulouse, Univers, Transport, Interfaces, Nanostructures, Atmosphère et environnement, Molécules (UMR 6213) (UTINAM), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences de l'Univers (INSU - CNRS), Université de Technologie de Belfort-Montbeliard (UTBM)-Ecole Nationale Supérieure de Mécanique et des Microtechniques (ENSMM)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS), and Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E)
Subjects: Delayed puberty, Pediatrics, medicine.medical_specialty, [SDV.IMM] Life Sciences [q-bio]/Immunology, Thalassemia, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Hematopoietic stem cell transplantation, 03 medical and health sciences, 0302 clinical medicine, Diabetes mellitus, medicine, Young adult, business.industry, Retrospective cohort study, Hematology, medicine.disease, 3. Good health, Transplantation, [SDV] Life Sciences [q-bio], 030220 oncology & carcinogenesis, [SDV.IMM]Life Sciences [q-bio]/Immunology, medicine.symptom, business, Busulfan, 030215 immunology, medicine.drug
Abstract: International audience; In this retrospective study, we evaluate long-term complications in nearly all β-thalassemia-major patients who successfully received allogeneic hematopoietic stem cell transplantation in France. Ninety-nine patients were analyzed with a median age of 5.9 years at transplantation. The median duration of clinical follow up was 12 years. All conditioning regimens were myeloablative, most were based on busulfan combined with cyclophosphamide, and more than 90% of patients underwent a transplant from a matched sibling donor. After transplantation, 11% of patients developed thyroid dysfunction, 5% diabetes, and 2% heart failure. Hypogonadism was present in 56% of females and 14% of males. Female patients who went on to normal puberty after transplant were significantly younger at transplantation than those who experienced delayed puberty (median age 2.5 vs. 8.7 years). Fertility was preserved in 9 of 27 females aged 20 years or older and 2 other patients became pregnant following oocyte donation. In addition to patient’s age and higher serum ferritin levels at transplantation, time elapsed since transplant was significantly associated with decreased height growth in multivariate analysis. Weight growth increased after transplantation particularly in females, 36% of adults being overweight at last evaluation. A comprehensive long-term monitoring, especially of endocrine late effects, is required after hematopoietic stem cell transplantation for thalassemia.
Published: 2018
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22. Lymphome de Hodgkin nodulaire à prédominance lymphocytaire chez l’enfant: présentation clinique, biologique et prise en charge actuelle

Author: Judith Landman-Parker, Grégory Guimard, Françoise Montravers, Aurore Coulomb-L'Hermine, Stephanie Gorde-Grosjean, and Anne Lambilliotte
Subjects: CD20, Cancer Research, medicine.medical_specialty, CD30, biology, business.industry, medicine.medical_treatment, Hematology, General Medicine, BCL6, medicine.disease, Gastroenterology, Lymphoma, Radiation therapy, Extranodal Disease, Oncology, hemic and lymphatic diseases, Internal medicine, biology.protein, Medicine, Radiology, Nuclear Medicine and imaging, Rituximab, Stage (cooking), business, medicine.drug
Abstract: Nodular lymphocyte predominant Hodgkin disease (NLPHL) differs clearly from classical Hodgkin lymphoma (cHL) by clinical presentation and more favorable outcome. Patients often present with early stage IA or IIA. Extranodal disease and B-symptoms are uncommon. Histologically, NLPHL is characterized by the presence of atypical "lymphocyte predominant cells" (LP cells) or "pop-corn" cells in a non-neoplastic and reactionnal nodular background of small mature B-lymphocytes. LP cells are negative for CD30 and positive for CD20, BCL6 and EMA (in half of the cases). FDG-PET plays an important role in evaluation of cHL and NLPHL for staging, therapy assessment and relapse. Historically, patients with NLPHL have been treated like patients with cHL, but their very favorable prognosis and the risk of late complications of chemotherapy and/or radiotherapy have led to a de-escalation in recent years. Patients with early stage could be treated by surgical adenectomy alone or associated with not intensive chemotherapy. Currently, there is no consensus regarding to the optimal treatment of patients with advanced stage. Rituximab used as monotherapy or in association with chemotherapy has achieved complete or partial responses. The outcome of NLPHL is singular by the frequent occurrence of late relapses and the risk of transformation into aggressive B lymphoma justifying an extended follow-up. Further prospective studies are needed to optimize treatment of these advanced and recurrent forms.
Published: 2014
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23. Combined therapy in children and adolescents with classical Hodgkin's lymphoma: A report from the SFCE on MDH-03 national guidelines

Author: Marlène Pasquet, L. Claude, Corinne Armari-Alla, Nathalie Aladjidi, P. Blouin, Caroline Thomas, C. Devoldere, Yves Reguerre, S. Gorde-Grosjean, Jean Donadieu, Pierre G. Lutz, A. Deville, C. Schmitt, Samuel Abbou, Virginie Gandemer, C. Curtillet, Hélène Pacquement, Odile Oberlin, Odile Minckes, Frédéric Millot, Carole Coze, E. Seror, Jacqueline Clavel, Thierry Leblanc, Sylvie Helfre, N. Garnier, M. Schell, Judith Landman-Parker, Anne Lambilliotte, and J P. Vanier
Subjects: Oncology, Male, Vincristine, medicine.medical_specialty, Cyclophosphamide, Adolescent, medicine.medical_treatment, Procarbazine, Bleomycin, Disease-Free Survival, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Prednisone, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, Medicine, Humans, Child, Neoplasm Staging, Chemotherapy, business.industry, Hematology, COPP, Hodgkin Disease, Vinblastine, Survival Rate, chemistry, 030220 oncology & carcinogenesis, Child, Preschool, Pediatrics, Perinatology and Child Health, Immunology, Practice Guidelines as Topic, Female, France, business, 030215 immunology, medicine.drug, Follow-Up Studies
Abstract: Hodgkin's lymphoma (HL) in children and adolescents is highly curable, but children are at risk of long-term toxicity. The MDH-03 guidelines were established in order to decrease the burden of treatment in good-responder patients, and this report should be considered a step toward further optimization of treatment within large collaborative trials. We report the therapy and long-term outcomes of 417 children and adolescents treated according to the national guidelines, which were applied between 2003 and 2007 in France. The patients were stratified into three groups according to disease extension. Chemotherapy consisted of four cycles of VBVP (vinblastine, bleomycin, VP16, prednisone) in localized stages (G1/95 pts/23%), four cycles of COPP/ABV (cyclophosphamide, vincristine, procarbazine, prednisone, adriamycin, bleomycin, vinblastine) cycles in intermediate stages (G2/184 pts/44%) and three cycles of OPPA (vincristine, procarbazine, prednisone, adriamycin) plus three cycles of COPP in advanced stages (G3/138 pts/33%). Radiation therapy of the involved field was given to 97% of the patients, with the dose limited to 20 Gy in good responders (88%). With a median follow-up of 6.6 years, the 5-year event-free survival (EFS) and overall survival (OS) were 86.7% (83.1-89.7%) and 97% (94.5-98.1%), respectively. EFS and OS for G1, G2, and G3 were 98% and 100%, 81% and 97%, and 87% and 95%, respectively. Low-risk patients treated without alkylating agents and anthracycline had excellent outcomes and a low expected incidence of late effects. Intensification with a third OPPA cycle in high-risk group patients, including stage IV patients, allowed for very good outcomes, without increased toxicity.
Published: 2016

24. Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing

Author: Anne Cortey, Helene Bourdeau, Lydie Da Costa, Nathalie Couque, Odile Fenneteau, Anne Lambilliotte, Julie Galimand, jelena-Hélène martinovic-Bouriel, Caroline Alby, Chloé Quélin, Sophie Dreux, Thierry Leblanc, Séverine Drunat, Mohandas Narla, Serge Pissard, and Catherine Thong Vanh
Subjects: Anemia, business.industry, Immunology, Prenatal diagnosis, Cell Biology, Hematology, Alpha-thalassemia, Bioinformatics, medicine.disease, Biochemistry, Specimen collection, Fetal anemia, Hydrops fetalis, medicine, Diamond–Blackfan anemia, business, Exome sequencing
Abstract: Fetal anemias are serious complications during pregnancies, which could lead to fetal death in case of hydrops fetalis (1/3000 pregnancies). Fetal anemia and hydrops fetalis are in most cases the result of fetal maternal alloimmunization, parvovirus B19 infection, fetal maternal hemorrhage, chromosomal abnormalities, congenital malformations, metabolic diseases, and in the context of hematological disorders, alpha-thalassemia. However, in one case out of 5, fetal anemia remains unexplained after an exhaustive first line of etiological evaluation. In order to identify the cause of the unexplained fetal anemia and to provide advice regarding prenatal diagnosis for next pregnancy, we have developed useful diagnostic tools on fetal blood based on erythrocyte and reticulocyte indices, examination of red cell morphology, flow cytometry (EMA test), osmotic gradient ektacytometry and molecular screening analysis. 43 fetal samples (30 probands) have been referred to our Hematology diagnostic lab in the time span between 2012-2018. In majority of the cases, various analyses were performed on fetal blood (23 out of 43) and in other instances during post-mortem examination following death (17 out of 43). Fetal blood purity was confirmed by microsatellite analysis on both parental and fetal DNAs. Informed consent was obtained from the mother in all cases. In 6 of 43 cases, prenatal diagnosis was performed after identification of the causal mutation responsible for the hydrops fetalis in the first fetus. Hydrops fetalis was suspected in 24 cases at the time of fetal sample collection. Red cell morphology and ektacytometry enabled the establishment of clinical diagnostic in two cases (congenital dyserythropoiesis type II (CDAII) and xerocytosis). Molecular screening analysis was performed by Sanger sequencing technique from 2012 to July 2016 and subsequently we designed a targeted Next Generation Sequencing (NGS) library including 74 genes involved in red cell disorders (n=9 fetuses) and exome sequencing (WES) was performed for 4 fetuses. Each identified allelic variation was confirmed by Sanger sequencing technique. Molecular Biology analysis (except the 6 prenatal diagnosis cases) was performed on 21 of 37 fetuses that enabled identification of the molecular defect in 10 fetuses. Rare red cell disorders were diagnosed in these cases including Diamond-Blackfan anemia (n=2), congenital dyserythropoiesis (n=6) and stomatocytosis (n=2) respectively. No putative pathogenous allelic variation following molecular screening could be identified in 4 fetuses. In the 6 cases which were screened for the molecular defect previously identified, none of the tested fetuses exhibited the allelic variation identified in the first fetus. In summary, targeted-NGS and WES are very valuable tools in the causal diagnosis of hydrops fetalis dues to unexplained anemia in addition to routine hematological tests (erythrocyte and reticulocyte indices, red cell morphology, flow cytometry, and ektacytometry) and after elimination of the most frequent causes of hydrops fetalis. This clinical problem is more frequent than has been previously surmised and needs more attention. Disclosures No relevant conflicts of interest to declare.
Published: 2019
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25. Génotypage RHD et RHCE chez des enfants drépanocytaires du CHU de Lille

Author: Christine Djobo, Anne Lambilliotte, Gauthier Alluin, Odile Fontaine, Annie Claude Manteau, Christophe Tournamille, France Pirenne, and Aline Floch
Subjects: Biochemistry (medical), Clinical Biochemistry, Hematology
Abstract: Les recommandations EFS preconisent la realisation de genotypage RHD et RHCE systematique a la recherche d’antigenes RH partiels chez les patients drepanocytaires ayant moins de 12 episodes transfusionnels. Quarante sept prelevements de patients drepanocytaires du service de pediatrie de l’hopital Jeanne de Flandre (CHU de Lille) ont ete transmis de novembre 2016 a novembre 2018 au laboratoire IHM EFS IdF pour la realisation de l’analyse. Nous avons voulu par ce travail, faire un etat des lieux chez nos patients, evaluer le pourcentage de modifications des consignes transfusionnelles et comparer nos resultats aux frequences rapportees par Floch et al (Transfus Med Hemother. 2018 Jul ; 45(4) : 264–270.) Parmi les 43 phenotypes RH1, 7 (16,3 %) presentent un allele RHD variant. Pour les 13 phenotypes RH2, 4 (30,8 %) presentent un antigene RH2 partiel. Des 47 phenotypes RH5, 4 (8,5 %) presentent un antigene RH5 partiel dont un associe a un RH2 partiel. Un seul phenotype RH4 partiel (2 %) parmi les 47 phenotypes RH4. Dans l’etude Floch et al portant sur 1148 patients, les pourcentages sont respectivement 22 %, 27,7 %, 6,2 % et 1,3 %. Au total, malgre le petit effectif (n = 47) le pourcentage d’alleles RH variants dans notre population semble proche des chiffres de l’etude Floch et al. Nous avons adapte les consignes transfusionnelles dans 17 % des cas. Et nous allons poursuivre cette etude a la recherche d’un lien entre les variants detectes et notre population de drepanocytaires.
Published: 2019
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26. Advanced stage nodular lymphocyte predominant Hodgkin lymphoma in children and adolescents: clinical characteristics and treatment outcome - a report from the SFCECCLG groups

Author: Anne Lambilliotte, Claudine Schmitt, Hélène Pacquement, Nathalie Aladjidi, Sabah Boudjemaa, Georgina W. Hall, Amy A Kirkwood, Stephanie Gorde-Grosjean, Samuel Abbou, Ananth Shankar, Judith Landman-Parker, Janis Hayward, Katja Freund, Stéphanie Haouy, Gaelle Roques, Alan D. Ramsay, and Thierry Leblanc
Subjects: Oncology, Male, medicine.medical_specialty, Pathology, Adolescent, medicine.medical_treatment, Biopsy, Treatment outcome, Multimodal Imaging, 03 medical and health sciences, 0302 clinical medicine, Recurrence, hemic and lymphatic diseases, Internal medicine, Medicine, Humans, Child, Neoplasm Staging, Chemotherapy, business.industry, Advanced stage, Complete remission, Hematology, medicine.disease, Combined Modality Therapy, Hodgkin Disease, Lymphoma, Radiation therapy, Treatment Outcome, Nodular Lymphocyte Predominant Hodgkin Lymphoma, 030220 oncology & carcinogenesis, Child, Preschool, Retreatment, Rituximab, Female, business, 030215 immunology, medicine.drug
Abstract: Summary Advanced stage nodular lymphocyte predominant Hodgkin lymphoma (nLPHL) is extremely rare in children and as a consequence, optimal treatment for this group of patients has not been established. Here we retrospectively evaluated the treatments and treatment outcomes of 41 of our patients from the UK and France with advanced stage nLPHL. Most patients received chemotherapy, some with the addition of the anti CD20 antibody rituximab or radiotherapy. Chemotherapy regimens were diverse and followed either classical Hodgkin lymphoma or B non-Hodgkin lymphoma protocols. All 41 patients achieved a complete remission with first line treatment and 40 patients are alive and well in remission. Eight patients subsequently relapsed and 1 patient died of secondary cancer (9 progression-free survival events). The median time to progression for those who progressed was 21 months (5·9–73·8). The median time since last diagnosis is 87·3 months (8·44–179·20). Thirty-six (90%), 30 (75%) and 27 (68%) patients have been in remission for more than 12, 24 and 36 months, respectively. Overall, the use of rituximab combined with multi-agent chemotherapy as first line treatment seems to be a reasonable therapeutic option.
Published: 2016

27. BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy

Author: Fleur Cohen-Aubart, Catherine Chassagne-Clément, Laurence Brugières, Anne Lutun, Catherine Paillard, Mohamed-Aziz Barkaoui, Alina Ferster, Hélène Pacquement, Jean Donadieu, Claire Galambrun, Valérie Taly, Jean-François Emile, Frederic Geissmann, Jean Louis Stephan, Despina Moshous, Caroline Thomas, Julien Haroche, Nathalie Aladjidi, Sabah Boudjemaa, Zofia Hélias-Rodzewicz, Valérie Rigau, Ludovic Mansuy, Frédérique Dijoud, Michel Peuchmaur, Sylvie Fraitag, Isabelle Pellier, Florence Renaud, Virginie Gandemer, Guy Leverger, Anne Lambilliotte, Kamila Kebaili, Anne Deville, Christine Bodemer, Anne Moreau, Geneviève Plat, Eric Jeziorski, Sébastien Héritier, Roger Lacave, Brigitte Lescoeur, Marion Gillibert-Yvert, Françoise Mazingue, Corinne Armari-Alla, Frédéric Millot, Jean Miron, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Biomarqueurs et essais cliniques en Cancérologie et Onco-Hématologie (BECCOH), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Université Paris-Saclay, Hôpital Trousseau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre hospitalier universitaire de Nantes (CHU Nantes), Université Paris Descartes - Paris 5 (UPD5), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Institut de Mathématiques de Jussieu (IMJ), Université Pierre et Marie Curie - Paris 6 (UPMC)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Pathologie pédiatrique (EA_3102), Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-IFR02, Centre Léon Bérard [Lyon], Hospices Civils de Lyon (HCL), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Developpement Normal et Pathologique du Système Immunitaire, Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'hématologie pédiatrique-oncologie, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut d’Hémato-Oncologie Pédiatrique, Institut de Génétique Moléculaire de Montpellier (IGMM), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Pellegrin, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Hôpital Universitaire des Enfants Reine Fabiola [Bruxelles, Belgique] (HUDERF), Institut Curie [Paris], Laboratoire d'hématologie biologique [Hôpital de la Timone - Hôpital Nord - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Université Pierre et Marie Curie - Paris 6 - UFR de Médecine Pierre et Marie Curie (UPMC), Université Pierre et Marie Curie - Paris 6 (UPMC), Centre Hospitalier Universitaire de Nice (CHU Nice), Hôpital de la Tronche, CHU Amiens-Picardie, CHU Trousseau [Tours], Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), CHU Pitié-Salpêtrière [AP-HP], Centre de Recherche en Cancérologie Nantes-Angers (CRCNA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM)-Hôtel-Dieu de Nantes-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Laennec-Centre National de la Recherche Scientifique (CNRS)-Faculté de Médecine d'Angers-Centre hospitalier universitaire de Nantes (CHU Nantes), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service d'hématologie et immunologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Service de médecine de l'enfant et de l'adolescent [CHU Rennes], CHU Pontchaillou [Rennes], Service de dermatologie [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), CHU Tenon [AP-HP], Médecine Personnalisée, Pharmacogénomique, Optimisation Thérapeutique (MEPPOT - U1147), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Memorial Sloane Kettering Cancer Center [New York], Supported by a grant from InVS and Institut National de la Santé et de la Recherche Médicale for the rare disease registry, this project received constant, unlimited support from the Association Histiocytose France, a grant from the Association Recherche et Maladie Hématologiques de l’Enfant, a grant from the Association Les 111 des Arts de Paris, a grant from the Association la Petite Maison dans la Prairie, a grant from the Gardrat family, and a grant from the Société Française de lutte contre les Cancers de l’Enfant et de l’Adolescent, the Fédération Enfants et Santé., AP-HP Hôpital universitaire Robert-Debré [Paris], Centre Hospitalier Universitaire [Rennes], CHU Necker - Enfants Malades [AP-HP], CHU Tenon [APHP], Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Hôpital Arnaud de Villeneuve, Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], CHU Toulouse [Toulouse], Hôpital Universitaire des Enfants - Reine Fabiola, Université Libre de Bruxelles, Institut Curie, Hôpital de la Timone [CHU - APHM] (TIMONE), CHU Strasbourg, Centre Hospitalier Universitaire [Grenoble] (CHU), Centre hospitalier universitaire d'Amiens (CHU Amiens-Picardie), CHU Saint-Etienne, CHU Pitié-Salpêtrière [APHP], PRES Université Nantes Angers Le Mans (UNAM), Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), 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], 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), 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), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), TALY, Valerie, Centre hospitalier universitaire de Poitiers ( CHU Poitiers ), Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ), Médecine Personnalisée, Pharmacogénomique, Optimisation Thérapeutique ( MEPPOT - U1147 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Memorial Sloan Kettering Cancer Center, CHRU Tours, Centre hospitalier universitaire de Nantes ( CHU Nantes ), Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Hospices Civils de Lyon ( HCL ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Hôpital de la Timone [CHU - APHM] ( TIMONE ), Institut Gustave Roussy ( IGR ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), CHU Nice, Centre Hospitalier Universitaire [Grenoble] ( CHU ), Centre hospitalier universitaire d'Amiens ( CHU Amiens-Picardie ), CHU Angers, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, and Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: Male, 0301 basic medicine, Cancer Research, Pathology, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Gastroenterology, Targeted therapy, Cohort Studies, 0302 clinical medicine, Langerhans cell histiocytosis, Adrenal Cortex Hormones, Antineoplastic Combined Chemotherapy Protocols, Molecular Targeted Therapy, Registries, Child, education.field_of_study, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Hematology, ORIGINAL REPORTS, 3. Good health, [SDV] Life Sciences [q-bio], Histiocytosis, Oncology, Child, Preschool, 030220 oncology & carcinogenesis, Female, France, Proto-Oncogene Proteins B-raf, medicine.medical_specialty, Adolescent, Population, [SDV.CAN]Life Sciences [q-bio]/Cancer, Vinblastine, 03 medical and health sciences, [SDV.CAN] Life Sciences [q-bio]/Cancer, Internal medicine, medicine, Humans, Clinical significance, education, neoplasms, Chemotherapy, [ SDV ] Life Sciences [q-bio], business.industry, Infant, Newborn, Infant, medicine.disease, digestive system diseases, Histiocytosis, Langerhans-Cell, 030104 developmental biology, Drug Resistance, Neoplasm, Mutation, business, V600E, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Purpose Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a broad spectrum of clinical manifestations and outcomes in children. The somatic BRAFV600E mutation occurs frequently, but clinical significance remains to be determined. Patients and Methods BRAFV600E mutation was investigated in a French LCH cohort. We analyzed associations between mutation status and clinical presentation, extent of disease, reactivation rate, response to therapy, and long-term permanent sequelae. Results Among 315 patients with successfully determined BRAF status, 173 (54.6%) carried a BRAFV600E mutation. Patients with BRAFV600E manifested more severe disease than did those with wild-type BRAF. Patients with BRAFV600E comprised 87.8% of patients (43 of 49) with multisystem LCH with risk organ involvement (liver, spleen, hematology), 68.6% of patients (35 of 51) with multisystem LCH without risk organ involvement, 43.9% of patients (86 of 196) with single-system LCH, and 42.1% of patients (8 of 19) with lung-involved LCH (P < .001). BRAFV600E mutation was also associated with organ involvement that could lead to permanent, irreversible damage, such as neurologic (75%) and pituitary (72.9%) injuries. Compared with patients with wild-type BRAF, patients with BRAFV600E more commonly displayed resistance to combined vinblastine and corticosteroid therapy (21.9% v 3.3%; P = .001), showed a higher reactivation rate (5-year reactivation rate, 42.8% v 28.1%; P = .006), and had more permanent, long-term consequences from disease or treatment (27.9% v 12.6%; P = .001). Conclusion In children with LCH, BRAFV600E mutation was associated with high-risk features, permanent injury, and poor short-term response to chemotherapy. Further population-based studies should be undertaken to confirm our observations and to assess the impact of BRAF inhibitors for this subgroup of patients who may benefit from targeted therapy.
Published: 2016
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28. Langerhans cell histiocytosis: therapeutic strategy and outcome in a 30-year nationwide cohort of 1478 patients under 18 years of age

Author: Abdellatif Tazi, Jean-François Emile, Yves Reguerre, Jean Donadieu, Khê Hoang-Xuan, Charlotte Rigaud, Yves Bertrand, Jean Miron, Caroline Thomas, Patrick Lutz, Mohamed Barkaoui, Claire Galambrun, Despina Moshous, Aurore Coulomb, Nathalie Aladjidi, Ludovic Mansuy, Virginie Gandemer, Corinne Armari-Alla, Anne Lambilliotte, Anne Deville, Geneviève Plat, Sébastien Héritier, Eric Jeziorski, Sylvie Fraitag, Nicolas Leboulanger, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hématologie et immunologie pédiatrique, Hospices Civils de Lyon (HCL)-CHU Lyon-Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL)-Hôpital Femme-Mère-Enfant (HFME), Service d'hématologie pédiatrique-oncologie, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, CIC - Bordeaux, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU de Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service d'Hématologie pédiatrique, Hôpital de la Timone, Marseille, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Hôpital de la Tronche, Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Anatomie et cytologie pathologiques [CHU Pitié-Salpêtrière] (ACP), 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 de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Pontchaillou [Rennes], Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), 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], Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], OncoNeuroTek [Paris], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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], Service de pneumologie [Saint-Louis], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Institut National de la Recherche Agronomique (INRA)-Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Pathology, Groupe hospitalier Ambroise Paré, Registre français des neutropénies chroniques sévères, Institut National de la Santé et de la Recherche Médicale, Association Histiocytose France, Association la Petite Maison dans la Prairie, PHRC 2001 CHU Nantes, French Ministry of Health, RMHE, GARDRAT family, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Trousseau [APHP], Service d'anatomie pathologique [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP]-Sorbonne Université (SU), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Service de neurologie Mazarin, CHU Pitié-Salpêtrière [APHP], Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [APHP]-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Hospices Civils de Lyon ( HCL ) -CHU Lyon-Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] ( IHOPe ), Hospices Civils de Lyon ( HCL ) -Hôpital Femme-Mère-Enfant (HFME), Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux]-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Centre Hospitalier Régional Universitaire [Montpellier] ( CHRU Montpellier ), Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), CHU Félix Guyon, Service d'anatomie pathologique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], 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 ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Institut Mondor de Recherche Biomédicale ( IMRB ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 ( UPEC UP12 ), 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 [APHP], Hôpital de la Salpétrière, 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 [APHP]-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 [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris]-Université Paris Diderot - Paris 7 ( UPD7 ), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité ( CRESS (U1153 / UMR_A 1125) ), Université Sorbonne Paris Cité ( USPC ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut National de la Recherche Agronomique ( INRA ), Service d'Anatomie et cytologie pathologiques = Service de Pathologie [CHU Pitié-Salpêtrière] (ACP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-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), 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)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], 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 ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), 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)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-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)-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], Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], and Université Paris Diderot - Paris 7 (UPD7)-Université Sorbonne Paris Cité (USPC)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Recherche Agronomique (INRA)
Subjects: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Refractory, Langerhans cell histiocytosis, Internal medicine, medicine, Humans, Cladribine, Child, [ SDV ] Life Sciences [q-bio], business.industry, historical comparisons, Age Factors, Infant, Newborn, Infant, Standard of Care, Hematology, medicine.disease, Combined Modality Therapy, Survival Analysis, Confidence interval, 3. Good health, Vinblastine, Surgery, Histiocytosis, Langerhans-Cell, 030104 developmental biology, Treatment Outcome, 030220 oncology & carcinogenesis, Child, Preschool, Population Surveillance, Cohort, Cytarabine, Female, France, business, Cohort study, medicine.drug, Follow-Up Studies
Abstract: International audience; The French national cohort of children with Langerhans cell histiocytosis (LCH) has included 1478 patients since it was established in 1983. LCH therapeutic strategies substantially changed in 1998, so we have divided the cohort into two 15-year periods. Starting in 1998, therapy duration increased from 6 to 12 months, repeated induction therapy was performed in cases showing a poor response to the first induction with vinblastine and steroids, and refractory disease in a risk organ (RO+) was treated with cladribine and cytarabine. A total of 483 (33%) patients were enrolled before 1998, and 995 (67%) after 1998. Five-year survival was 96·6% (95% confidence interval: 95·4–97·5%) overall, improving from 92% pre-1998 to 99% post-1998 (P \textless 0·001 adjusted to disease extent). This change was supported by an increase in 5-year survival from 60% to 92% in the RO+ group. Survival was particularly associated with cladribine and cytarabine among refractory RO+ patients. Disease reactivation was slightly less frequent after 1998, due to better enrolment of single-system patients, extended therapy duration, and more efficient second-line therapy. The crude rates of endocrine and neurological sequelae (the most frequent sequelae) appeared to improve over time, but this difference was not observed when the analysis was stratified by disease extent
Published: 2016
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29. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

Author: Christine Perot, Thierry Leblanc, Jean Donadieu, Odile Fenneteau, Christine Bellanné-Chantelot, Fanny Fouyssac, Anne Lambilliotte, Gérard Michel, Patrick Boutard, Catherine Paillard, Alain Morali, Nizar Mahlaoui, Florence Bellanger, Sandrine Beaufils, Valérie Mialou, Nathalie Aladjidi, Virginie Gandemer, Jacques Schmitz, Yves Bertrand, Blandine Beaupain, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'Hématologie Biologique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, AP-HP, CHU Pitié-Salpêtrière [AP-HP], IFR Necker-Enfants Malades (IRNEM), 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 National de la Recherche Scientifique (CNRS), Service d'hématologie pédiatrique-oncologie, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, Service de pédiatrie, Hospices Civils de Lyon (HCL)-Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL), Centre de Recherche Saint-Antoine (UMRS893), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Service d'Hématologie et d'Oncologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'Hémato-oncologie pédiatrique, CHU Clermont-Ferrand, Service d'hématologie-oncologie pédiatrique, CHU Pontchaillou [Rennes], Unité d'hémato-immuno-oncologie pédiatrique [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), Service de Gastro-entérologie Pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Gastro-Entérologie Pédiatrique [CHRU Nancy], Service d'hématologie et immunologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), The French registry is supported by grants from Amgen SAS, Chugai SA, GIS Maladies Rares, Institut de veille sanitaire and Inserm. This project is supported by a grant from Association Laurette Fugain and by constant and unlimited support of the Association Sportive de Saint Quentin Fallavier since 2004 with the unlimited commitment of Mr Gonnot., Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], 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 Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hématologie-immunologie-oncologie pédiatrique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré, AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Pitié-Salpêtrière [APHP], IFR Necker-Enfants Malades ( IRNEM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Hospices Civils de Lyon ( HCL ) -Hôpital Debrousse, Hospices Civils de Lyon ( HCL ) -Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] ( IHOPe ), Hospices Civils de Lyon ( HCL ), Centre de Recherche Saint-Antoine ( CR Saint-Antoine ), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Pierre et Marie Curie - Paris 6 ( UPMC ), Hôpital de la Timone [CHU - APHM] ( TIMONE ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 ), and De Villemeur, Hervé
Subjects: [SDV.MHEP.HEM] Life Sciences [q-bio]/Human health and pathology/Hematology, Male, Pathology, Pediatrics, genotype, Lipomatosis, [SDV.GEN] Life Sciences [q-bio]/Genetics, secondary leukemia, 0302 clinical medicine, Risk Factors, hemic and lymphatic diseases, [ SDV.MHEP.HEM ] Life Sciences [q-bio]/Human health and pathology/Hematology, cytopenia, Prospective Studies, Registries, Prospective cohort study, Bone Marrow Diseases, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Shwachman–Diamond syndrome, Shwachman-Diamond syndrome, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, Hematology, Prognosis, 3. Good health, Survival Rate, Leukemia, 030220 oncology & carcinogenesis, Female, France, medicine.medical_specialty, aplastic anemia, Anemia, monosomy 7, macromolecular substances, 03 medical and health sciences, [SDV.BDD] Life Sciences [q-bio]/Development Biology, medicine, Humans, [ SDV.BDD ] Life Sciences [q-bio]/Development Biology, Aplastic anemia, Survival rate, [SDV.GEN]Life Sciences [q-bio]/Genetics, Cytopenia, business.industry, Infant, medicine.disease, Hematologic Diseases, Exocrine Pancreatic Insufficiency, Original Articles and Brief Reports, [ SDV.GEN ] Life Sciences [q-bio]/Genetics, myelodysplasia, business, Follow-Up Studies, 030215 immunology
Abstract: International audience; BACKGROUND: Patients with the Shwachman-Diamond syndrome often develop hematologic complications. No risk factors for these complications have so far been identified. The aim of this study was to classify the hematologic complications occurring in patients with Shwachman-Diamond syndrome and to investigate the risk factors for these complications. DESIGN AND METHODS: One hundred and two patients with Shwachman-Diamond syndrome, with a median follow-up of 11.6 years, were studied. Major hematologic complications were considered in the case of definitive severe cytopenia (i.e. anemia
Published: 2012
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30. Childhood hodgkin's lymphoma, non-hodgkin's lymphoma and factors related to the immune system: The escale study (SFCE)

Author: Anne Lambilliotte, Nathalie Aladjidi, Denis Hémon, Jacqueline Clavel, Alain Robert, Christophe Bergeron, Alain Monnereau, Patrick Lutz, Laurent Orsi, Virginie Gandemer, Jérémie Rudant, Hélène Pacquement, Dominique Plantaz, Gérard Michel, Geneviève Margueritte, Catherine Patte, Judith Landman-Parker, Francoise Mechinaud, Epidémiologie environnementale des cancers, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie [Paris], Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Service d'Oncologie, Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service d'hématologie pédiatrique-oncologie, Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'Hémato-oncologie Pédiatrique, CHU Bordeaux [Bordeaux]-Hôpital Pellegrin, Institut de Génétique et Développement de Rennes (IGDR), Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Hématogoie pédiatrique, Service de pédiatrie, CHU Grenoble, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service Hématologie Infantile, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), and Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)
Subjects: Male, Cancer Research, Pediatrics, medicine.medical_specialty, Adolescent, [SDV]Life Sciences [q-bio], Population, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, medicine, Humans, Registries, 030212 general & internal medicine, Child, education, education.field_of_study, business.industry, Childhood Lymphoma, Lymphoma, Non-Hodgkin, Case-control study, Odds ratio, medicine.disease, Hodgkin's lymphoma, Hodgkin Disease, Lymphoma, Non-Hodgkin's lymphoma, Birth order, Oncology, Case-Control Studies, Child, Preschool, 030220 oncology & carcinogenesis, Female, business
Abstract: International audience; The study investigated the role of factors considered related to the early stimulation of the immune system in the aetiology of childhood lymphoma. The national registry-based case-control study, Escale, was carried out in France over the period 2003-2004. Population controls were frequency matched with the cases on age and gender. Data were obtained from structured telephone questionnaires administered to mothers. Odds ratios (ORs) were estimated using unconditional regression models adjusted for potential confounders. Data from 128 cases of Hodgkin's lymphoma (HL) aged 5-14 years, 164 cases of non-Hodgkin's lymphoma (NHL) aged 2-14 years and 1,312 controls were analyzed. Negative associations were observed between HL and day care attendance [OR = 0.5 (0.2-1.2)] and between HL and repeated early common infections among non-breastfed children [OR = 0.3 (.2-0.7), p = 0.003] [OR for breastfed children: 1.0 (.5-2.1)], but not for the other factors investigated. Negative associations were observed between NHL and birth order 3 or more [OR = 0.7 (0.4-1.1)], prolonged breastfeeding [OR = 0.5 (0.3-1.0)], regular contact with farm animals [OR = 0.5 (0.3-1.0)], frequent farm visits in early life [OR = 0.6 (0.4-1.1)] and history of asthma [OR = 0.6 (0.3-1.1)]. In conclusion, the results partly support the hypothesis that an abnormal maturation of the immune system may play a role in childhood HL or NHL, and call for further investigations.
Published: 2011
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31. Childhood Acute Leukemia, Early Common Infections, and Allergy: The ESCALE Study

Author: Anne Lambilliotte, Yves Bertrand, Arnaud Petit, Alain Robert, Jérémie Rudant, André Baruchel, Jacqueline Clavel, Francoise Mechinaud, Pierre Bordigoni, Julie Tandonnet, Florence Menegaux, Denis Hémon, Gérard Michel, Laurent Orsi, and Geneviève Margueritte
Subjects: Male, Pediatrics, medicine.medical_specialty, Adolescent, Acute myeloblastic leukemia, Epidemiology, Population, Infections, Surveys and Questionnaires, Acute lymphocytic leukemia, Hypersensitivity, Odds Ratio, medicine, Animals, Humans, Child, education, Acute leukemia, education.field_of_study, business.industry, Incidence, Incidence (epidemiology), Infant, Child Day Care Centers, Odds ratio, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Asthma, Leukemia, Myeloid, Acute, Leukemia, Breast Feeding, Research Design, Case-Control Studies, Child, Preschool, Regression Analysis, Female, France, Birth Order, business, Breast feeding
Abstract: This study investigated the role of factors considered related to early stimulation of the immune system in the etiology of childhood acute leukemia. The national registry-based case-control study ESCALE was carried out in France in 2003-2004. Population controls were frequency matched to cases on age and gender. Data were obtained from structured telephone questionnaires administered to mothers. Odds ratios were estimated using unconditional regression models adjusted for potential confounders. Included were 634 acute lymphoblastic leukemia cases, 86 acute myeloblastic leukemia cases, and 1,494 controls aged ≥1 year. Negative associations were observed between acute lymphoblastic leukemia and birth order (P for trend < 0.0001), attendance at a day-care center before age 1 year (odds ratio (OR) = 0.8, 95% confidence interval (CI): 0.6, 1.1), prolonged breastfeeding (OR = 0.7, 95% CI: 0.5, 1.0), repeated early common infections (OR = 0.7, 95% CI: 0.6, 0.9), regular contact with farm animals (OR = 0.6, 95% CI: 0.5, 0.8), frequent farm visits in early life (OR = 0.4, 95% CI: 0.3, 0.6), and history of asthma (OR = 0.7, 95% CI: 0.4, 1.0) or eczema (OR = 0.7, 95% CI: 0.6, 0.9). Results support the hypothesis that repeated early infections and asthma may play a role against childhood acute leukemia.
Published: 2010
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32. Chimiothérapie anticancéreuse et développement dentaire

Author: Anne Lambilliotte, Françoise Mazingue, Philippe Libersa, Brigitte Nelken, Fabien Porée, Laurent Nawrocki, and Jean-Claude Libersa
Subjects: Periodontics, Dentistry (miscellaneous), Oral Surgery
Abstract: Les progres du traitement des cancers de l’enfant posent le probleme des sequelles dues aux therapeutiques appliquees pendant l’odontogenese. Si les effets iatrogenes des radiations ionisantes sont bien analyses, les repercussions des seuls antimitotiques sur la dentition sont moins connues. C’est pourquoi, afin d’eviter les biais lies a des observations retrospectives, 13 enfants souffrant en majorite d’une leucemie aigue lymphoblastique et tous traites par le meme protocole chimiotherapique ont ete suivis prospectivement ainsi que 11 enfants temoins. L’influence des antimitotiques sur la dentition est abordee sous deux angles : la mesure de la croissance de la deuxieme molaire mandibulaire droite, dent choisie en reference, pendant les differentes phases du protocole chimiotherapique puis en remission et la surveillance de l’apparition d’anomalies dentaires. Le support est l’utilisation d’orthopantomogrammes tires a intervalles reguliers apres etude du grandissement induit par le generateur. Les resultats convergent vers un ralentissement de la vitesse de mineralisation coronaire de la 47 par la chimiotherapie d’induction-consolidation alors que le rythme radiculaire semble insensible a toutes les phases de chimiotherapie. La non prise en compte possible pour le moment d’eventuels defauts structurels amelo-dentinaires sousestime certainement l’importance des troubles. Cependant deja, 8 enfants sur 13 ont developpe des anomalies dentaires correlees a la periode d’administration des antimitotiques. Les troubles les plus recurrents sont des racines dentaires greles et/ou courtes (5 enfants) et les agenesies (3 enfants). Quelque soit l’anomalie, la dent la plus frequemment touchee est la seconde premolaire. Les atteintes les plus importantes (agenesies, microdonties) concernent les enfants traites les plus jeunes. (Med Buccale Chir Buccale 2003; 9: 7-20)
Published: 2003
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33. [Nodular lymphocyte-predominant Hodgkin lymphoma in children: clinical course, biology, and management]

Author: Stéphanie, Gorde-Grosjean, Grégory, Guimard, Anne, Lambilliotte, Aurore, Coulomb-Lhermine, Françoise, Montravers, and Judith, Landman-Parker
Subjects: Diagnosis, Differential, Antibodies, Monoclonal, Murine-Derived, Phenotype, Antineoplastic Combined Chemotherapy Protocols, Humans, Antineoplastic Agents, Lymph Nodes, Neoplasm Recurrence, Local, Prognosis, Rituximab, Hodgkin Disease, Immunophenotyping, Neoplasm Staging
Abstract: Nodular lymphocyte predominant Hodgkin disease (NLPHL) differs clearly from classical Hodgkin lymphoma (cHL) by clinical presentation and more favorable outcome. Patients often present with early stage IA or IIA. Extranodal disease and B-symptoms are uncommon. Histologically, NLPHL is characterized by the presence of atypical "lymphocyte predominant cells" (LP cells) or "pop-corn" cells in a non-neoplastic and reactionnal nodular background of small mature B-lymphocytes. LP cells are negative for CD30 and positive for CD20, BCL6 and EMA (in half of the cases). FDG-PET plays an important role in evaluation of cHL and NLPHL for staging, therapy assessment and relapse. Historically, patients with NLPHL have been treated like patients with cHL, but their very favorable prognosis and the risk of late complications of chemotherapy and/or radiotherapy have led to a de-escalation in recent years. Patients with early stage could be treated by surgical adenectomy alone or associated with not intensive chemotherapy. Currently, there is no consensus regarding to the optimal treatment of patients with advanced stage. Rituximab used as monotherapy or in association with chemotherapy has achieved complete or partial responses. The outcome of NLPHL is singular by the frequent occurrence of late relapses and the risk of transformation into aggressive B lymphoma justifying an extended follow-up. Further prospective studies are needed to optimize treatment of these advanced and recurrent forms.
Published: 2014

34. Revisiting Splenectomy in Childhood Immune Thrombocytopenic Purpura in the Era of New Therapies: The French Experience

Author: Corinne Guitton, Patrick Boutard, Marlène Pasquet, Dominique Plantaz, Nathalie Aladjidi, Thierry Leblanc, Aude Marie-Cardine, Guy Leverger, Patrick Lutz, Raoul Santiago, Jean-Louis Stephan, Sophie Bayart, Claire Godard Sebillotte, Anne Lambilliotte, Vincent Barlogis, Corinne Pondarré, Pierre Rohrlich, Karine de Bosredon, Y Perel, and Martine Munzer
Subjects: Cytopenia, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, medicine.medical_treatment, Gold standard, Splenectomy, Retrospective cohort study, medicine.disease, Thrombocytopenic purpura, hemic and lymphatic diseases, Relative risk, medicine, business, Laparoscopy, Rare disease
Abstract: Objective: While splenectomy is the gold standard treatment for refractory primary immune thrombocytopenia (ITP) in adult, its place remains debated in children. The French Rare Disease Plan provided us the opportunity to conduct a collaborative study of the efficiency and tolerance of this procedure in childhood ITP. Patients and methods: A retrospective study was conducted in France in order to identify children with ITP treated with splenectomy during a 9-year period. A total of 78 children were included. Data from the ongoing CEREVANCE national cohort of childhood auto-immune cytopenia in 30 units were reviewed and completed by a direct contact with the referent physicians. International terminology for response definition was used. Relapsefree survival was assessed by the Kaplan-Meier method. Results: The median ages at ITP diagnosis and splenectomy were 9.6 and 12.4 years respectively. The median duration of ITP before splenectomy was 24 months (1-162); 62 children had chronic ITP. The median number of treatment lines before splenectomy was 2 (1-7). Laparoscopy was used in 81% of cases. Four children underwent immediate surgical complications. With a median follow-up of 41 months, complete remission (CR) was maintained at the latest news in 84% of children. CR was obtained in 77% of cases with intra-splenic platelets destruction, and in no case with non-splenic destruction (p=0.11). Using a very strict definition for relapse, the 5-year relapse-free survival was 51% [IC95% 37-64]. No death or overwhelming sepsis was reported. Conclusions: In this national study with a long term follow up, the excellent benefit/risk ratio of splenectomy for refractory ITP confirms that in skilled and concerted teams, the procedure is still at the forefront of curative treatments. Isotopic evaluation is of value but other prognostic factors for CR are to be determined. Lifelong survey of potential infectious and thrombotic risk at adult age has to be coordinated by the referring physician. The place for other therapeutic options, in order to postpone as late as possible the splenectomy in childhood ITP is now to be determined.
Published: 2012
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35. Outcome of children and adolescents with recurrent/refractory classical Hodgkin lymphoma, a study from the Société Française de Lutte contre le Cancer des Enfants et des Adolescents (SFCE)

Author: Judith Landman-Parker, Christine Edan, Alain Robert, Martine Munzer, Catherine Paillard, Caroline Thomas, Patrick Lutz, Florence Dommange, Hélène Pacquement, Odile Oberlin, Sophie Ansoborlo, Jean Donadieu, Anne Lambilliotte, Gérard Michel, Thierry Leblanc, Stephanie Gorde-Grosjean, Jean-Louis Stephan, Claudine Schmitt, Mathias Schell, and Yves Perel
Subjects: Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, Salvage therapy, Disease-Free Survival, Autologous stem-cell transplantation, Refractory, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, medicine, Autologous transplantation, Humans, Child, Retrospective Studies, Salvage Therapy, Chemotherapy, business.industry, Cancer, Retrospective cohort study, Hematology, medicine.disease, Combined Modality Therapy, Hodgkin Disease, Surgery, Radiation therapy, Treatment Outcome, Child, Preschool, Disease Progression, Female, France, Neoplasm Recurrence, Local, business, Stem Cell Transplantation
Abstract: There is little data available regarding children and adolescents with Hodgkin lymphoma (HL) who relapse after combined-modality treatment, even though they have a substantial chance of cure. The purpose of this national retrospective study was to evaluate the outcome of patients with recurrent/refractory HL and determine adverse prognostic factors. From 1990 to 2006, 70 patients (median age 13·9 years) with refractory (n = 31) or first relapse (n = 39) HL were identified. Median time from end of treatment to relapse was 6 months (3-56). Relapses occurred in irradiated areas in 43/70 patients. Salvage therapy consisted of chemotherapy and 50 patients received high-dose chemotherapy with autologous stem cell transplantation. Radiotherapy was performed in 29 cases, tandem autologous transplantation in five and allograft in three. With a median follow-up of 40 months (2-140), significant prognostic factors were time to progression/relapse and response to therapy before autograft. Event-free survival and overall survival in patients with refractory disease, early relapse and late relapse were 35 ± 9%, 67 ± 11%, 76 ± 10% and 48 ± 11%, 89 ± 7% and 80 ± 10%, respectively. As progression3 months was a major adverse prognostic factor, novel therapeutic approaches are needed for this group of patients. By contrast, patients have substantial chance of long term second remission in case of relapse3 months.
Published: 2011

36. Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study

Author: Karima Mokhtari, Mohamed Barkaoui, Marie-Anne Barthez, Catherine Garel, Dominique Plantaz, Anne Lambilliotte, Julien Haroche, Gérard Couillault, Jean Donadieu, Nadine Martin-Duverneuil, Khê Hoang-Xuan, Olivier Aumaître, Alain Robert, Perrine Marec Bérard, Ahmed Idbaih, Patrick Lutz, Anne-Sophie Defachelles, Jean Sibilia, Hubert Ducou Le Pointe, Jean-Loup Pennaforte, Ghislain Nokam Talom, Corinne Armari-Alla, Martine Munzer, Martine Gardembas, T Généreau, Judith Landman Parker, Sophie Ng Wing Tin, Renato Fior, Michel Polak, and Maria Ribeiro
Subjects: Adult, Central Nervous System, Male, medicine.medical_specialty, Adolescent, lcsh:Medicine, Vinblastine, Gastroenterology, Young Adult, Langerhans cell histiocytosis, Central Nervous System Diseases, Internal medicine, medicine, Humans, Genetics(clinical), Pharmacology (medical), Child, Adverse effect, Genetics (clinical), Retrospective Studies, Medicine(all), business.industry, Research, Standard treatment, lcsh:R, Infant, Retrospective cohort study, General Medicine, Middle Aged, medicine.disease, Antineoplastic Agents, Phytogenic, Clinical trial, Histiocytosis, Langerhans-Cell, Histiocytosis, Treatment Outcome, Child, Preschool, Concomitant, Immunology, Female, Steroids, business, medicine.drug
Abstract: Background Vinblastine (VBL) is the standard treatment for systemic Langerhans cell histiocytosis (LCH), but little is known about its efficacy in central nervous system (CNS) mass lesions. Methods A retrospective chart review was conducted. Twenty patients from the French LCH Study Group register met the inclusion criteria. In brief, they had CNS mass lesions, had been treated with VBL, and were evaluable for radiologic response. Results The median age at diagnosis of LCH was 11.5 years (range: 1-50). Intravenous VBL 6 mg/m2 was given in a 6-week induction treatment, followed by a maintenance treatment. The median total duration was 12 months (range: 3-30). Eleven patients received steroids concomitantly. Fifteen patients achieved an objective response; five had a complete response (CR: 25%), ten had a partial response (PR: 50%), four had stable disease (SD: 20%) and one patient progressed (PD: 5%). Of interest, four out of the six patients who received VBL without concomitant steroids achieved an objective response. With a median follow-up of 6.8 years, the 5-year event-free and overall survival was 61% and 84%, respectively. VBL was well-tolerated and there were no patient withdrawals due to adverse events. Conclusion VBL, with or without steroids, could potentially be a useful therapeutic option in LCH with CNS mass lesions, especially for those with inoperable lesions or multiple lesions. Prospective clinical trials are warranted for the evaluation of VBL in this indication.
Published: 2011
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37. A novel (epsilongammadeltabeta)(o)-thalassemia deletion associated with an alpha globin gene triplication leading to a severe transfusion dependent fetal thalassemic syndrome

Author: Christian, Rose, Julien, Rossignol, Anne, Lambilliotte, Sandrine, Depret, Nathalie, Le Metayer, and Serge, Pissard
Subjects: Adult, Male, Hydrops Fetalis, Infant, Newborn, Pedigree, alpha-Globins, Pregnancy, Gene Duplication, Humans, Thalassemia, Blood Transfusion, Female, Letter to the Editor, Sequence Deletion
Published: 2009

38. Childhood hematopoietic malignancies and parental use of tobacco and alcohol: the ESCALE study (SFCE)

Author: Yves Bertrand, Alain Robert, Guy Leverger, Jacqueline Clavel, Jérémie Rudant, Gérard Michel, Denis Hémon, André Baruchel, Florence Menegaux, Catherine Patte, Hélène Pacquement, Cécile Vérité, Anne Lambilliotte, Geneviève Margueritte, Virginie Gandemer, Secretariat, U754, Epidémiologie environnementale des cancers, Université Paris-Sud - Paris 11 (UP11)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Service d'hématologie et immunologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Service d'hématologie pédiatrique-oncologie, Hôpital Jeanne de Flandre [Lille], Hôpital Debrousse, Hospices Civils de Lyon (HCL), LMB, Institut Gustave Roussy (IGR), Neuroendocrinologie cellulaire et moléculaire, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Curie [Paris], Hôpital Pellegrin Tripode, Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital de la Timone [CHU - APHM] (TIMONE), Hôpital Arnaud de Villeneuve [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Hôpital Sud, Registre National des Hémopathies malignes de l'Enfant (RNHE), Institut de Veille Sanitaire (INVS)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Hôpital d'enfants
Subjects: Male, Cancer Research, Pediatrics, Alcohol, chemistry.chemical_compound, 0302 clinical medicine, Pregnancy, Surveys and Questionnaires, hemic and lymphatic diseases, Epidemiology, Odds Ratio, Alcohol consumption, Registries, 030212 general & internal medicine, Child, Children, Hodgkin's lymphoma, Incidence, Lymphoma, Non-Hodgkin, Smoking, Non-Hodgkin's lymphoma, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Burkitt Lymphoma, Hodgkin Disease, 3. Good health, Maternal alcohol, Leukemia, Myeloid, Acute, Oncology, Maternal Exposure, Child, Preschool, Hematologic Neoplasms, Prenatal Exposure Delayed Effects, 030220 oncology & carcinogenesis, Paternal Exposure, Female, France, medicine.medical_specialty, Alcohol Drinking, Parental smoking, 03 medical and health sciences, medicine, Humans, Acute leukemia, business.industry, Public health, medicine.disease, Logistic Models, chemistry, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Case-Control Studies, Etiology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business
Abstract: International audience; OBJECTIVES: Investigating the role of parental smoking and maternal alcohol consumption in the etiology of childhood hematopoietic malignancies. METHODS: The national registry-based case-control study ESCALE was carried out in France over the period 2003-2004. Population controls were frequency matched with the cases on age and gender. Maternal smoking and alcohol consumption during pregnancy and paternal smoking since before conception were reported by the mothers in a structured telephone questionnaire. Odds ratios (OR) were estimated using unconditional regression models closely adjusted for potential confounders. RESULTS: A total of 765 cases of acute leukemia (AL), 130 of Hodgkin's lymphoma (HL), 165 of non-Hodgkin's lymphoma (NHL) and 1681 controls were included. Paternal smoking was significantly associated with childhood ALL (OR = 1.4 [1.1-1.7]), AML (OR = 1.5 [1.0-2.3]), Burkitt (OR = 2.0 [1.2-3.2]), and anaplastic large cell (OR = 3.2 [1.2-9.1]) NHL. For the four diseases, the ORs significantly increased with the number of cigarettes smoked. No association with HL or with other types of NHL was observed. The associations with maternal alcohol consumption and cigarette smoking during pregnancy were less consistent. CONCLUSION: The results support the hypothesis that only paternal smoking, and not maternal alcohol consumption or cigarette smoking, plays a role in childhood hematopoietic malignancies.
Published: 2008
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39. Advanced Stage Nodular Lymphocyte Predominant Hodgkin Lymphoma (NLPHL) in Children and Adolescents : Retrospective Study from Sfce and Ukccssg

Author: Dominique Plantaz, Georgina W. Hall, Samuel Abbou, Anne Lambilliotte, Janis Hayward, Roques Gaelle, Hewitt Martin, Geneviève Plat, Thierry Leblanc, Hélène Pacquement, Stéphanie Haouy, Nathalie Aladjidi, Stephanie Gorde-Grosjean, Claudine Schmitt, Judith Landman-Parker, and Ananth Shankar
Subjects: medicine.medical_specialty, Pediatrics, business.industry, Immunology, Cell Biology, Hematology, medicine.disease, Biochemistry, Chemotherapy regimen, Lymphoma, Surgery, Regimen, B symptoms, Median follow-up, medicine, Cumulative incidence, Rituximab, Stage (cooking), medicine.symptom, business, medicine.drug
Abstract: Background: Advanced stage nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) in children and adolescents is a very rare entity and therefore few data about their treatment and outcome are available. Aim of the study: To describe the clinical characteristics and evolution of advanced stage NLPHL in children and adolescents Methods:A retrospective analysis of clinical data of patients treated in the SFCE and UK CCLG centers Patients and Results: 32 patients with NLPHL according to the REAL/WHO classification with disease stage ≥ IIB were recorded between 1998 and 2013. Two patients had composite NLPHL and B cell non-Hodgkin lymphoma at diagnosis. Median age was 12 years (range 4-17) and the majority were boys [n=28; 88%]. Stage distribution was: IIB =2 ( 6%), III =25 (71%) & stage IV =5 (15%). Twenty-seven patients had cervical node involvement while mediastinum involvement was seen in 11 (34% ) patients. B symptoms were seen in 2 and eight patients had ESR >30 mm. Sites of extra nodal localisation were bone, bone marrow, liver and lungs.Standard Hodgkin chemotherapy regimens (CT) were used in 26 patients (81%), combined with rituximab (R) in 5 children (3 to 6 doses) and along with 20Gy involved field radiotherapy in 6 children. NHL chemotherapy regimens were used in 5 patients; R-CHOP [n=3], LMB 01 regimen [n=1] and other regimen [n=1]. One patient received rituximab alone (4 doses) and 1 child had no treatment [watch and wait strategy]. Median follow up is 45 months (5 – 162). Outcome: Overall survival is 96% and cumulative incidence of an event is 25%. Eight patients relapsed with a median delay of 15 months (5-73), and 3 had a second relapse 9,11 and 48 months respectively after first relapse. One patient treated with chemotherapy alone developed Ewing's sarcoma and died 2 years later. The only patient treated with rituximab alone relapsed at 22 months. Of note, no relapses were observed in patients who had chemotherapy and rituximab. Conclusion: Our report shows that while advanced stage NLPHL in children and adolescents is rare, their clinical outcome is very good. Additionally, this report may inform the basis of future treatment of advanced stage NLPHL in children and adolescents. Disclosures No relevant conflicts of interest to declare.
Published: 2014
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40. Childhood leukaemia, polymorphisms of metabolism enzyme genes, and interactions with maternal tobacco, coffee and alcohol consumption during pregnancy

Author: Guy Leverger, Florence Menegaux, Anne Lambilliotte, Philippe Beaune, Danièle Sommelet, André Baruchel, Stéphanie Bellec, Marie-Anne Loriot, Sandra Rebouissou, Catherine Bonaïti-Pellié, Jean Feunteun, Denis Hémon, Jacqueline Clavel, Kamila Kebaili, Brigitte Lescoeur, Kaniewski, Nadine, Recherches épidémiologiques et statistiques sur l'environnement et la santé., Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Toxicologie Moleculaire (U490), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Génétique oncologique (GO - UMR 8125), Université Paris-Sud - Paris 11 (UP11)-Institut Gustave Roussy (IGR)-Centre National de la Recherche Scientifique (CNRS), Génétique épidémiologique et structures des populations humaines (Inserm U535), Epidémiologie, sciences sociales, santé publique (IFR 69), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-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 National de la Recherche Scientifique (CNRS)-Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-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 National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'hématologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hématologie : Immuno-Hématologie pédiatrique et transplantation de moelle osseuse, Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service d'hématologie pédiatrique-oncologie, Hôpital Jeanne de Flandre [Lille], Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Service d'Hématologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'hématologie et immunologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Toxicologie Moleculaire, Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Génétique oncologique ( GO - UMR 8125 ), Université Paris-Sud - Paris 11 ( UP11 ) -Institut Gustave Roussy ( IGR ) -Centre National de la Recherche Scientifique ( CNRS ), Génétique épidémiologique et structures des populations humaines ( Inserm U535 ), Epidémiologie, sciences sociales, santé publique ( IFR 69 ), Université Panthéon-Sorbonne ( UP1 ) -Université Paris-Sud - Paris 11 ( UP11 ) -École des hautes études en sciences sociales ( EHESS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université Panthéon-Sorbonne ( UP1 ) -Université Paris-Sud - Paris 11 ( UP11 ) -École des hautes études en sciences sociales ( EHESS ) -Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Assistance publique - Hôpitaux de Paris (AP-HP)-Université Paris Diderot - Paris 7 ( UPD7 ) -Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ), Service d'hématologie-immunologie-oncologie pédiatrique, Université Pierre et Marie Curie - Paris 6 ( UPMC ) -Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Trousseau [APHP], Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), and Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 ( UPD7 )
Subjects: Cancer Research, Epidemiology, MESH : Polymorphism, Genetic, MESH : Prenatal Exposure Delayed Effects, Physiology, EPHX1, MESH : Child, Preschool, Coffee, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, 0302 clinical medicine, MESH : Res, MESH: Pregnancy, MESH : Child, Pregnancy, Risk Factors, Polymorphism (computer science), MESH: Child, Genotype, Odds Ratio, MESH : Female, Child, [ SDV.MHEP.GEO ] Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, Glutathione Transferase, Genetics, 0303 health sciences, Leukemia, Smoking, MESH : Acute Disease, [ SDV.SPEE ] Life Sciences [q-bio]/Santé publique et épidémiologie, MESH : Adult, MESH: Case-Control Studies, 3. Good health, MESH: Cytochrome P-450 CYP1A1, Oncology, Child, Preschool, Prenatal Exposure Delayed Effects, 030220 oncology & carcinogenesis, Acute Disease, MESH: Acute Disease, Female, Adult, MESH : Case-Control Studies, MESH : Glutathione Transferase, Alcohol Drinking, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, MESH: Prenatal Exposure Delayed Effects, 03 medical and health sciences, [SDV.CAN] Life Sciences [q-bio]/Cancer, MESH: Leukemia, MESH: Polymorphism, Genetic, Cytochrome P-450 CYP1A1, medicine, Humans, MESH: Res, Allele, Risk factor, 030304 developmental biology, MESH: Glutathione Transferase, Polymorphism, Genetic, MESH: Humans, MESH : Humans, MESH : Leukemia, MESH: Child, Preschool, Public Health, Environmental and Occupational Health, MESH: Coffee, MESH: Adult, Odds ratio, medicine.disease, MESH : Coffee, MESH: Odds Ratio, MESH : Pregnancy, MESH : Alcohol Drinking, [SDV.MHEP.GEO] Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Case-Control Studies, MESH : Cytochrome P-450 CYP1A1, MESH : Odds Ratio, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Female, MESH: Alcohol Drinking, Blood sampling
Abstract: International audience; Metabolic polymorphisms may influence the risk of childhood leukaemia related to maternal tobacco, coffee or alcohol consumption. The data were extracted from a case-control study including 280 cases of acute leukaemia and 288 controls. Blood sampling was obtained for a representative subset of 219 cases and 105 controls. Gene-environment interactions were estimated using both case-control and case-only analyses. The polymorphisms of CYP1A1, GSTM1, GSTP1, GSTT1 and NQO1 were not associated with the risk of leukaemia. The slow EPHX1 allele was negatively associated with childhood leukaemia while an inverse non-significant association was observed with the fast EPHX1 allele. Maternal smoking during pregnancy was not related to leukaemia, but an interaction was observed in the case-only analysis with CYP1A1*2A variant allele (odds ratio (OR) 2.2 [1.0-4.9]) and with GSTM1 deletion (OR 2.3 [1.2-4.4]). Conversely, coffee drinking interacted negatively with NQO1 polymorphism in the case-only analysis (OR 0.6 [0.3-1.2] and 0.4 [0.1-1.0] for light and heavy coffee consumptions, respectively). This study suggests that maternal smoking may be a risk factor for leukaemia in children who carry CYP1A1 or GSTM1 genotypes, which might increase reactive metabolites of polycyclic aromatic hydrocarbons.
Published: 2005

41. Acute childhood leukaemia and environmental exposure to potential sources of benzene and other hydrocarbons; a case-control study

Author: André Baruchel, Anne Lambilliotte, Etienne Vilmer, K Kebaili, Jacqueline Clavel, Danièle Sommelet, C Steffen, Guy Leverger, Denis Hémon, Marie-Françoise Auclerc, Anne Auvrignon, Secretariat, U754, Recherches épidémiologiques et statistiques sur l'environnement et la santé., Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'hématologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'hématologie-immunologie-oncologie pédiatrique [CHU Trousseau], Université Pierre et Marie Curie - Paris 6 (UPMC)-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), Service d'hématologie : Immuno-Hématologie pédiatrique et transplantation de moelle osseuse, Hôpital Debrousse, Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service d'hématologie pédiatrique-oncologie, Hôpital Jeanne de Flandre [Lille], Service d'Hématologie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service d'hématologie et immunologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)
Subjects: Male, MESH: Benzene, 010501 environmental sciences, 01 natural sciences, 0302 clinical medicine, Residence Characteristics, hemic and lymphatic diseases, MESH: Child, Epidemiology, Odds Ratio, Medicine, hydrocarbons, MESH: Residence Characteristics, MESH: Maternal Exposure, Child, Confounding, MESH: Infant, Newborn, Environmental exposure, Precursor Cell Lymphoblastic Leukemia-Lymphoma, MESH: Case-Control Studies, MESH: Infant, MESH: Leukemia, Lymphocytic, Acute, L1, Maternal Exposure, 030220 oncology & carcinogenesis, Child, Preschool, leukaemia, Original Article, Female, epidemiology, France, environment, medicine.medical_specialty, MESH: Environmental Exposure, Occupational medicine, 03 medical and health sciences, Acute lymphocytic leukemia, Environmental health, MESH: Hydrocarbons, Humans, 0105 earth and related environmental sciences, childhood, Pregnancy, MESH: Humans, business.industry, MESH: Child, Preschool, Public Health, Environmental and Occupational Health, Case-control study, Infant, Newborn, Infant, Benzene, Odds ratio, Environmental Exposure, medicine.disease, MESH: Male, MESH: Odds Ratio, MESH: France, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Case-Control Studies, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, MESH: Female
Abstract: Aim: To analyse the association between potential environmental exposure to hydrocarbons and the risk of acute childhood leukaemia. Methods: A hospital based multicentre case control study, stratified on centre, age, and sex, with 280 leukaemia cases and 285 controls was carried out. Data were collected by a standardised interview of the mothers. Results: No clear association was seen between maternal occupational exposure to hydrocarbons during pregnancy and leukaemia, or between residential traffic density and leukaemia. There was an association between dwellings neighbouring a petrol station or a repair garage during childhood and the risk of childhood leukaemia (OR 4.0, 95% CI 1.5 to 10.3), with a duration trend. The association, which appeared particularly strong for acute non-lymphocytic leukaemia (OR 7.7, 95% CI 1.7 to 34.3), was not altered by adjustment for potential confounding factors. Conclusions: Results showed an association between acute childhood leukaemia and dwellings neighbouring auto repair garages and petrol stations, which are benzene emitting sources. These findings could be due to chance, although the strength of the association and the duration trend are arguments for a causal association.
Published: 2004
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42. A novel ( ) -thalassemia deletion associated with an globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome

Author: Julien Rossignol, Anne Lambilliotte, Serge Pissard, Christian Rose, Sandrine Depret, and Nathalie Le Metayer
Subjects: Hemolytic anemia, Thalassemia, Heterozygote advantage, Hematology, Biology, medicine.disease, Molecular biology, Hemoglobinopathy, Hydrops fetalis, Immunology, Gene duplication, medicine, Globin, Alpha globulin
Abstract: (ɛγδβ)°-thalassemia is a very rare form of thalassemia only recognized in heterozygotes and caused by unique and sporadic deletions.[1][1]–[3][2] The α/non α–globin chain ratio is imbalanced like in β thalassemia patients but without elevation of HbF or HbA2.[4][3] They are characterized
Published: 2009
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43. CL032 - Purpura thrombopénique immunologique de l’enfant : la place de la splénectomie

Author: Raoul Santiago, Guy Leverger, S. Claeyssens, C. Godard Sebillotte, Nathalie Aladjidi, Hervé Chambost, Sophie Bayart, Thierry Leblanc, Y. Perel, Corinne Pondarré, Pierre Rohrlich, F. Lavrand, Aude Marie-Cardine, and Anne Lambilliotte
Subjects: Pediatrics, Perinatology and Child Health
Abstract: Objectif Decrire l’efficacite, la tolerance, et les facteurs predictifs de reussite de la splenectomie dans le purpura thrombopenique immunologique (PTI) de l’enfant. Patients et Methodes Etude retrospective nationale des enfants de moins de 18 ans, traites par splenectomie pour un PTI du 1 er janvier 2000 au 31 aout 2009, conduite par le CEREVANCE, incluant 74 enfants. Resultats L’âge median au diagnostic etait 9,4 ans (0,8-16,5), l’âge median a la splenectomie de 12,5 ans (3,5-17,4), la duree mediane d’evolution du PTI avant splenectomie de 26 mois (1-162). L’intervention a ete realisee par cœlioscopie dans 79% des cas, convertie en laparotomie dans 19% des cas, 9 complications post-operatoires ont ete notees. A 1 mois de la splenectomie, 81% des enfants etaient en remission complete (RC). Avec un suivi median apres splenectomie de 38 mois (0,3-109), 85% des enfants etaient en RC, et 70% sans traitement ni poussee depuis plus d’un an (RCD). Aucune infection severe n’a ete observee. Les enfants en RCD etaient significativement plus âges au diagnostic initial (âge median 11,1 vs 8,2, p = 0,019). Conclusion Cette etude confirme l’excellent rapport benefice-risque de la splenectomie dans le PTI du grand enfant. L’observance des mesures antiinfectieuses est a poursuivre toute la vie.
Published: 2010
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44. BRAF Mutation Correlates With High-Risk Langerhans Cell Histiocytosis and Increased Resistance to First-Line Therapy.

Author: Héritier S, Emile JF, Barkaoui MA, Thomas C, Fraitag S, Boudjemaa S, Renaud F, Moreau A, Peuchmaur M, Chassagne-Clément C, Dijoud F, Rigau V, Moshous D, Lambilliotte A, Mazingue F, Kebaili K, Miron J, Jeziorski E, Plat G, Aladjidi N, Ferster A, Pacquement H, Galambrun C, Brugières L, Leverger G, Mansuy L, Paillard C, Deville A, Armari-Alla C, Lutun A, Gillibert-Yvert M, Stephan JL, Cohen-Aubart F, Haroche J, Pellier I, Millot F, Lescoeur B, Gandemer V, Bodemer C, Lacave R, Hélias-Rodzewicz Z, Taly V, Geissmann F, and Donadieu J
Subjects: Adolescent, Adrenal Cortex Hormones administration & dosage, Antineoplastic Combined Chemotherapy Protocols pharmacology, Child, Child, Preschool, Cohort Studies, Drug Resistance, Neoplasm, Female, France epidemiology, Histiocytosis, Langerhans-Cell enzymology, Histiocytosis, Langerhans-Cell epidemiology, Humans, Infant, Infant, Newborn, Male, Molecular Targeted Therapy, Proto-Oncogene Proteins B-raf antagonists & inhibitors, Registries, Vinblastine administration & dosage, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Histiocytosis, Langerhans-Cell drug therapy, Histiocytosis, Langerhans-Cell genetics, Mutation, Proto-Oncogene Proteins B-raf genetics
Abstract: Purpose: Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia with a broad spectrum of clinical manifestations and outcomes in children. The somatic BRAF(V600E) mutation occurs frequently, but clinical significance remains to be determined., Patients and Methods: BRAF(V600E) mutation was investigated in a French LCH cohort. We analyzed associations between mutation status and clinical presentation, extent of disease, reactivation rate, response to therapy, and long-term permanent sequelae., Results: Among 315 patients with successfully determined BRAF status, 173 (54.6%) carried a BRAF(V600E) mutation. Patients with BRAF(V600E) manifested more severe disease than did those with wild-type BRAF. Patients with BRAF(V600E) comprised 87.8% of patients (43 of 49) with multisystem LCH with risk organ involvement (liver, spleen, hematology), 68.6% of patients (35 of 51) with multisystem LCH without risk organ involvement, 43.9% of patients (86 of 196) with single-system LCH, and 42.1% of patients (8 of 19) with lung-involved LCH (P < .001). BRAF(V600E) mutation was also associated with organ involvement that could lead to permanent, irreversible damage, such as neurologic (75%) and pituitary (72.9%) injuries. Compared with patients with wild-type BRAF, patients with BRAF(V600E) more commonly displayed resistance to combined vinblastine and corticosteroid therapy (21.9% v 3.3%; P = .001), showed a higher reactivation rate (5-year reactivation rate, 42.8% v 28.1%; P = .006), and had more permanent, long-term consequences from disease or treatment (27.9% v 12.6%; P = .001)., Conclusion: In children with LCH, BRAF(V600E) mutation was associated with high-risk features, permanent injury, and poor short-term response to chemotherapy. Further population-based studies should be undertaken to confirm our observations and to assess the impact of BRAF inhibitors for this subgroup of patients who may benefit from targeted therapy., (© 2016 by American Society of Clinical Oncology.)
Published: 2016
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