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1. Mutational signature, cancer driver genes mutations and transcriptomic subgroups predict hepatoblastoma survival

Author

Pire, Aurore, Hirsch, Theo Z., Morcrette, Guillaume, Imbeaud, Sandrine, Gupta, Barkha, Pilet, Jill, Cornet, Marianna, Fabre, Monique, Guettier, Catherine, Branchereau, Sophie, Brugières, Laurence, Guerin, Florent, Laithier, Véronique, Coze, Carole, Nagae, Genta, Hiyama, Eiso, Laurent-Puig, Pierre, Rebouissou, Sandra, Sarnacki, Sabine, Chardot, Christophe, Capito, Carmen, Faure-Conter, Cécile, Aerts, Isabelle, Taque, Sophie, Fresneau, Brice, and Zucman-Rossi, Jessica

Published
2024
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2. Cytaphérèses pédiatriques (atelier SFGM-TC)

Author

Chabannon, Christian, Benakli, Malek, Alexandrova, Kamelia, Coze, Carole, Dalle, Jean-Hughes, Giraud, Christine, Huynh, Phuong, Kanouni, Tarik, Kanold, Justyna, Lesieur, Isabelle, Levavasseur, Aurélie, Yakoub-Agha, Ibrahim, and Baudoux, Etienne

Published
2024
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7. The role of pediatric oncologist in prenatal diagnosis: A 10-year retrospective study at Assistance Publique Hôpitaux de Marseille (AP-HM).

Author

Min, Victoria, Coze, Stephanie, D'Ercole, Claude, Panait, Nicoleta, Sigaudy, Sabine, Aschero, Audrey, Zattara, Helene, Bretelle, Florence, Revon-Riviere, Gabriel, and Coze, Carole

Abstract

Solid tumors or predisposition syndromes are increasingly suspected before birth. However optimal management and outcomes remain unclear. We have performed a ten-year retrospective study of oncologic indications of prenatal diagnosis in public hospitals in Marseille. Data were obtained from prenatal diagnosis center and hospital imaging databases and pediatric oncology department files. Fifty-one cases were identified, 40 with mass: adrenal 17, sacrococcygeal 9, cardiac 7, abdominal 4, ovarian 1, cervical 2; 8 with developmental abnormalities (omphalocele 4, macroglossia 4), 3 WITH familial predisposition syndromes (familial rhabdoid 2, Li-Fraumeni 1). Median detection time was 30 week. Termination of pregnancy was decided for 9 fetuses (4 cardiac lesions and suspected tuberous sclerosis, 2 sacrococcygeal tumors, 1 Beckwith–Wiedemann Syndrome, 2 SMARCB1 mutations. Preterm birth occurred in 8 cases. Eleven newborns (26,1%) required intensive care (8 for mechanical complications). Of of 17 adrenal mass ES, 4 disappeared before birth and 5 before one year. Seventeen newborns underwent surgery: 13 masses (teratoma 7, myelomeningocele 2, cystic nephroma 1, neuroblastoma 2), 4 omphaloceles, one biopsy. Surgery performed after one year for incomplete regression identified 1 neuroblastoma, 2 bronchogenic cysts and 2 nonmalignant masses. Three newborns received chemotherapy. Except one patient with BWS who died of obstructive apnea, all children are alive disease free with a median follow-up of 60 months [9–131 months]. Twelve have sequelae. Various solid tumors and cancer predisposition syndromes can be detected before birth. A multidisciplinary collaboration is strongly recommended for optimal management before and after birth. [ABSTRACT FROM AUTHOR]

Published
2024
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10. Supplemental Figure 4 from Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, primary, Colmet Daage, Leo, primary, Richer, Wilfrid, primary, Gentien, David, primary, Pierron, Gaelle, primary, Lapouble, Eve, primary, Bellini, Angela, primary, Clement, Nathalie, primary, Iacono, Isabelle, primary, Bréjon, Stéphanie, primary, Carrere, Marjorie, primary, Reyes, Cécile, primary, Hocking, Toby, primary, Bernard, Virginie, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Faure-Conter, Cécile, primary, Coze, Carole, primary, Plantaz, Dominique, primary, Defachelles, Anne Sophie, primary, Thebaud, Estelle, primary, Gambart, Marion, primary, Millot, Frédéric, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Puisieux, Alain, primary, Delattre, Olivier, primary, Combaret, Valérie, primary, and Schleiermacher, Gudrun, primary

Published
2023
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11. Supplemental Patient Information from Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, primary, Colmet Daage, Leo, primary, Richer, Wilfrid, primary, Gentien, David, primary, Pierron, Gaelle, primary, Lapouble, Eve, primary, Bellini, Angela, primary, Clement, Nathalie, primary, Iacono, Isabelle, primary, Bréjon, Stéphanie, primary, Carrere, Marjorie, primary, Reyes, Cécile, primary, Hocking, Toby, primary, Bernard, Virginie, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Faure-Conter, Cécile, primary, Coze, Carole, primary, Plantaz, Dominique, primary, Defachelles, Anne Sophie, primary, Thebaud, Estelle, primary, Gambart, Marion, primary, Millot, Frédéric, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Puisieux, Alain, primary, Delattre, Olivier, primary, Combaret, Valérie, primary, and Schleiermacher, Gudrun, primary

Published
2023
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12. Supplemental Figure 3 from Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, primary, Colmet Daage, Leo, primary, Richer, Wilfrid, primary, Gentien, David, primary, Pierron, Gaelle, primary, Lapouble, Eve, primary, Bellini, Angela, primary, Clement, Nathalie, primary, Iacono, Isabelle, primary, Bréjon, Stéphanie, primary, Carrere, Marjorie, primary, Reyes, Cécile, primary, Hocking, Toby, primary, Bernard, Virginie, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Faure-Conter, Cécile, primary, Coze, Carole, primary, Plantaz, Dominique, primary, Defachelles, Anne Sophie, primary, Thebaud, Estelle, primary, Gambart, Marion, primary, Millot, Frédéric, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Puisieux, Alain, primary, Delattre, Olivier, primary, Combaret, Valérie, primary, and Schleiermacher, Gudrun, primary

Published
2023
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13. Supplemental Figure 5 from Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, primary, Colmet Daage, Leo, primary, Richer, Wilfrid, primary, Gentien, David, primary, Pierron, Gaelle, primary, Lapouble, Eve, primary, Bellini, Angela, primary, Clement, Nathalie, primary, Iacono, Isabelle, primary, Bréjon, Stéphanie, primary, Carrere, Marjorie, primary, Reyes, Cécile, primary, Hocking, Toby, primary, Bernard, Virginie, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Faure-Conter, Cécile, primary, Coze, Carole, primary, Plantaz, Dominique, primary, Defachelles, Anne Sophie, primary, Thebaud, Estelle, primary, Gambart, Marion, primary, Millot, Frédéric, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Puisieux, Alain, primary, Delattre, Olivier, primary, Combaret, Valérie, primary, and Schleiermacher, Gudrun, primary

Published
2023
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14. Supplemental Table 1 from Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, primary, Colmet Daage, Leo, primary, Richer, Wilfrid, primary, Gentien, David, primary, Pierron, Gaelle, primary, Lapouble, Eve, primary, Bellini, Angela, primary, Clement, Nathalie, primary, Iacono, Isabelle, primary, Bréjon, Stéphanie, primary, Carrere, Marjorie, primary, Reyes, Cécile, primary, Hocking, Toby, primary, Bernard, Virginie, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Faure-Conter, Cécile, primary, Coze, Carole, primary, Plantaz, Dominique, primary, Defachelles, Anne Sophie, primary, Thebaud, Estelle, primary, Gambart, Marion, primary, Millot, Frédéric, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Puisieux, Alain, primary, Delattre, Olivier, primary, Combaret, Valérie, primary, and Schleiermacher, Gudrun, primary

Published
2023
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15. Supplemental Figure 2 from Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, primary, Colmet Daage, Leo, primary, Richer, Wilfrid, primary, Gentien, David, primary, Pierron, Gaelle, primary, Lapouble, Eve, primary, Bellini, Angela, primary, Clement, Nathalie, primary, Iacono, Isabelle, primary, Bréjon, Stéphanie, primary, Carrere, Marjorie, primary, Reyes, Cécile, primary, Hocking, Toby, primary, Bernard, Virginie, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Faure-Conter, Cécile, primary, Coze, Carole, primary, Plantaz, Dominique, primary, Defachelles, Anne Sophie, primary, Thebaud, Estelle, primary, Gambart, Marion, primary, Millot, Frédéric, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Puisieux, Alain, primary, Delattre, Olivier, primary, Combaret, Valérie, primary, and Schleiermacher, Gudrun, primary

Published
2023
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16. Supplemental Table 2 from Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, primary, Colmet Daage, Leo, primary, Richer, Wilfrid, primary, Gentien, David, primary, Pierron, Gaelle, primary, Lapouble, Eve, primary, Bellini, Angela, primary, Clement, Nathalie, primary, Iacono, Isabelle, primary, Bréjon, Stéphanie, primary, Carrere, Marjorie, primary, Reyes, Cécile, primary, Hocking, Toby, primary, Bernard, Virginie, primary, Peuchmaur, Michel, primary, Corradini, Nadège, primary, Faure-Conter, Cécile, primary, Coze, Carole, primary, Plantaz, Dominique, primary, Defachelles, Anne Sophie, primary, Thebaud, Estelle, primary, Gambart, Marion, primary, Millot, Frédéric, primary, Valteau-Couanet, Dominique, primary, Michon, Jean, primary, Puisieux, Alain, primary, Delattre, Olivier, primary, Combaret, Valérie, primary, and Schleiermacher, Gudrun, primary

Published
2023
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17. Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study

Author

Berbegall, Ana P., Bogen, Dominik, Pötschger, Ulrike, Beiske, Klaus, Bown, Nick, Combaret, Valérie, Defferrari, Raffaella, Jeison, Marta, Mazzocco, Katia, Varesio, Luigi, Vicha, Ales, Ash, Shifra, Castel, Victoria, Coze, Carole, Ladenstein, Ruth, Owens, Cormac, Papadakis, Vassilios, Ruud, Ellen, Amann, Gabriele, Sementa, Angela R., Navarro, Samuel, Ambros, Peter F., Noguera, Rosa, and Ambros, Inge M.

Published
2018
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19. Long-term side effects of radiotherapy for pediatric localized neuroblastoma: Results from clinical trials NB90 and NB94

Author

Ducassou, Anne, Gambart, Marion, Munzer, Caroline, Padovani, Laetitia, Carrie, Christian, Haas-Kogan, Daphne, Bernier-Chastagner, Valérie, Demoor, Charlotte, Claude, Line, Helfre, Sylvie, Bolle, Stéphanie, Leseur, Julie, Huchet, Aymeri, Rubie, Hervé, Valteau-Couanet, Dominique, Schleiermacher, Gudrun, Coze, Carole, Defachelles, Anne-Sophie, Marabelle, Aurélien, Ducassou, Stéphane, Devalck, Christine, Gandemer, Virginie, Munzer, Martine, Laprie, Anne, and On behalf of the Neuroblastoma study group and radiotherapy group of the French Society of Children with Cancer (SFCE)

Published
2015
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23. Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience

Author

Pondrom, Morgane, Bougeard, Gaëlle, Karanian, Marie, Bonneau-Lagacherie, Jacynthe, Boulanger, Cecile, Boutroux, Hélène, Briandet, Claire, Chevreau, Christine, Corradini, Nadège, Coze, Carole, Defachelles, Anne Sophie, Galmiche-Roland, Louise, Orbach, Daniel, Piguet, Christophe, Scoazec, Jean Yves, Vérité, Cécile, Willems, Marjolaine, Frebourg, Thierry, Minard, Véronique, Brugières, Laurence, Bonneau‐Lagacherie, Jacynthe, Galmiche‐Roland, Louise, Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Léon Bérard [Lyon], CHU Toulouse [Toulouse], 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), Immuno-hématologie pédiatrique (MaRIH), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut Claudius Regaud, and Hôpital de la Timone [CHU - APHM] (TIMONE)

Subjects
Male, Oncology, medicine.medical_treatment, chemotherapy, Germline, 0302 clinical medicine, MESH: Child, MESH: Germ-Line Mutation, Medicine, TP53, Child, early detection, MESH: Tumor Suppressor Protein p53, Rhabdomyosarcoma, Lymph node, second malignancy, MESH: Follow-Up Studies, Hematology, MESH: Infant, 3. Good health, Survival Rate, medicine.anatomical_structure, Child, Preschool, 030220 oncology & carcinogenesis, Female, medicine.symptom, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, MESH: Survival Rate, education, Disease-Free Survival, Fraumeni, 03 medical and health sciences, Internal medicine, Humans, Li-Fraumeni syndrome, neoplasms, Anaplasia, Germ-Line Mutation, Retrospective Studies, MESH: Adolescent, Chemotherapy, MESH: Humans, business.industry, MESH: Rhabdomyosarcoma, MESH: Child, Preschool, Infant, nutritional and metabolic diseases, MESH: Retrospective Studies, medicine.disease, MESH: Male, anaplastic rhabdomyosarcoma, Radiation therapy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Li–Fraumeni syndrome, Localized disease, MESH: Disease-Free Survival, Pediatrics, Perinatology and Child Health, rhabdomyosarcoma, Tumor Suppressor Protein p53, business, MESH: Female, Follow-Up Studies, 030215 immunology
Abstract

Objective To describe the clinical characteristics and outcome of patients with Li-Fraumeni-associated rhabdomyosarcoma (RMS). Method Retrospective analysis of data from 31 French patients with RMS diagnosed before the age of 20 years associated with a TP53 pathogenic germline variant. Cases were identified through the French Li-Fraumeni database. Central histologic review was performed in 16 cases. Results The median age at diagnosis was 2.3 years, and the median follow-up was 9.1 years (0.3-34.8). The main tumor sites were head and neck (n = 13), extremities (n = 8), and trunk (n = 8). The local pathology report classified the 31 tumors in embryonal (n = 26), alveolar (n = 1), pleomorphic (n = 1), and spindle-cell (n = 1) RMS (missing = 2). After histological review, anaplasia (diffuse or focal) was reported in 12/16 patients. Twenty-five patients had localized disease, three had lymph node involvement, and three distant metastases. First-line therapy combined surgery (n = 27), chemotherapy (n = 30), and radiotherapy (n = 14) and led to RMS control in all, but one patient. Eleven patients relapsed, and 18 patients had second malignancies. The 10-year event-free, progression-free, and overall survival rates were 36% (95% CI: 20-56), 62% (95% CI: 43-77) and 76% (95% CI: 56-88), respectively. The 10-year cumulative risk of second malignancies was 40% (95% CI: 22-60). Conclusion The high incidence of multiple primary tumors strongly influences the long-term prognosis of RMS associated with TP53 pathogenic germline variants. Anaplastic RMS in childhood, independently of the familial history, should lead to TP53 analysis at treatment initiation to reduce, whenever possible, the burden of genotoxic drugs and radiotherapy in carriers and to ensure the early detection of second malignancies.

Published
2020

24. Prospective phase II study of children affected by bilateral intraocular retinoblastoma with macular involvement of both eyes or in the only preserved eye. Macular tumor control, eye preservation rate, and visual outcome

Author

Russo, Ida, primary, Levy‐Gabriel, Christine, additional, Dupont, Axelle, additional, Lumbroso‐Le Rouic, Livia, additional, Cassoux, Nathalie, additional, Desjardins, Laurence, additional, Bertozzi, Anne‐Isabelle, additional, Coze, Carole, additional, Doz, François, additional, Savignoni, Alexia, additional, and Aerts, Isabelle, additional

Published
2020
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27. Healthcare system barriers of breast and thyroid screening for childhood and young adulthood cancer survivors in France A qualitative study of the DeNaCaPST programme at one year

Author

demoor-goldschmidt, charlotte, primary, berger, claire, additional, guichard, isabelle, additional, SUPIOT, STEPHANE, additional, dezellus, aliette, additional, filhon, bruno, additional, bondiau, piere-yves, additional, poiree, maryline, additional, oudot, caroline, additional, claude, line, additional, truc, gilles, additional, briandet, claire, additional, padovani, laetitia, additional, coze, carole, additional, bernier, valerie, additional, kerr, christine, additional, reguerre, yves, additional, sudour-bonnange, helene, additional, gaudichon, jeremie, additional, vigneron, celine, additional, dumas, agnes, additional, and vathaire, florent de, additional

Published
2019
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29. Cytaphérèses pédiatriques: recommandations de la Société Francophone de Greffe de Moelle et de Thérapie Cellulaire (SFGM-TC)

Author

CHABANNON, Christian, BENAKLI, Malek, ALEXANDROVA, Kamelia, COZE, Carole, DALLE, Jean-Hughes, GIRAUD, Christine, HUYNH, Phuong, KANOUNI, Tarik, KANOLD, Justyna, LESIEUR, Isabelle, LEVAVASSEUR, Aurélie, Yakoub-Agha, Ibrahim, and BAUDOUX, Etienne

Abstract

La pratique des cytaphérèses pédiatriques – en particulier chez les enfants de faible poids – se distingue de la pratique des aphérèses adultes par un faible nombre d’actes ; cette rareté complique la formation pratique initiale et continue par tutorat des personnels impliqués, nécessaire pour l’habilitation et le maintien des compétences. Une formation spécifique est cependant indispensable pour garantir la sécurité de l’enfant et des personnels concernés pendant et après le prélèvement, mais aussi la qualité du produit cellulaire prélevé et sa conformité aux exigences du prescripteur qui sont exprimées en fonction de la finalité du prélèvement. Les enfants de petits ou de très petits poids méritent une attention particulière : nature et qualité des abords veineux nécessaires pour le bon fonctionnement du séparateur, risques de fluctuations hémodynamiques en relation avec l’importance du volume sanguin dans le circuit extracorporel par rapport au volume sanguin total de l’enfant, risques de toxicité du citrate et de manifestations d’hypocalcémie, minimisation du stress associé à l’acte médico-technique par des mesures qui peuvent inclure mais ne sont pas limitées à la sédation. Les compétences nécessaires sont rarement réunies au sein de la même équipe ; elles requièrent une coopération étroitement coordonnée entre les équipes d’aphérèse, les équipes pédiatriques, voire les équipes de réanimation pédiatrique, qu’elles appartiennent ou non aux mêmes établissements de santé. Ce partenariat doit être formalisé dans un document décrivant les responsabilités des différents acteurs en fonction de leur qualification et de leur affectation (prescriptions, décisions médicales, décisions infirmières).

Published
2024
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30. Treatment of retinoblastoma in Sub-Saharan Africa: Experience of the paediatric oncology unit at Gabriel Toure Teaching Hospital and the Institute of African Tropical Ophthalmology, Bamako, Mali

Author

Traoré, Fousseyni, primary, Sylla, Fatou, additional, Togo, Boubacar, additional, Kamaté, Bakarou, additional, Diabaté, Konimba, additional, Diakité, Abdoul Aziz, additional, Diall, Hawa, additional, Dicko, Fatoumata, additional, Sylla, Mariam, additional, Bey, Pierre, additional, Desjardins, Laurence, additional, Gagnepain-Lacheteau, Anne, additional, Coze, Carole, additional, Harif, Mhamed, additional, and Doz, François, additional

Published
2018
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31. Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Author

Brioude, Frédéric, primary, Kalish, Jennifer M., additional, Mussa, Alessandro, additional, Foster, Alison C., additional, Bliek, Jet, additional, Ferrero, Giovanni Battista, additional, Boonen, Susanne E., additional, Cole, Trevor, additional, Baker, Robert, additional, Bertoletti, Monica, additional, Cocchi, Guido, additional, Coze, Carole, additional, De Pellegrin, Maurizio, additional, Hussain, Khalid, additional, Ibrahim, Abdulla, additional, Kilby, Mark D., additional, Krajewska-Walasek, Malgorzata, additional, Kratz, Christian P., additional, Ladusans, Edmund J., additional, Lapunzina, Pablo, additional, Le Bouc, Yves, additional, Maas, Saskia M., additional, Macdonald, Fiona, additional, Õunap, Katrin, additional, Peruzzi, Licia, additional, Rossignol, Sylvie, additional, Russo, Silvia, additional, Shipster, Caroleen, additional, Skórka, Agata, additional, Tatton-Brown, Katrina, additional, Tenorio, Jair, additional, Tortora, Chiara, additional, Grønskov, Karen, additional, Netchine, Irène, additional, Hennekam, Raoul C., additional, Prawitt, Dirk, additional, Tümer, Zeynep, additional, Eggermann, Thomas, additional, Mackay, Deborah J. G., additional, Riccio, Andrea, additional, and Maher, Eamonn R., additional

Published
2018
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32. Recurrence of Solid Pseudopapillary Neoplasms of the Pancreas: Results of a Nationwide Study of Risk Factors and Treatment Modalities

Author

Irtan, Sabine, Galmiche-Rolland, Louise, Elie, Caroline, Orbach, Daniel, Sauvanet, Alain, Elias, Dominique, Guérin, Florent, Coze, Carole, Faure-Conter, Cécile, Becmeur, François, Demarche, Martine, Galifer, René Benoît, Galloy, Marie Agnès, Podevin, Guillaume, Aubert, Didier, Piolat, Christian, De Lagausie, Pascal, Sarnacki, Sabine, Université Paris Descartes - Paris 5 (UPD5), Université Pierre et Marie Curie - Paris 6 (UPMC), Service de neurochirurgie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Service de pathologie [CHU Necker], Unité de recherche clinique / Centre d'investigation clinique [CHU Necker], Service de pédiatrie, adolescents, jeunes adultes [Institut Curie], Institut Curie, Service d’Hépatologie [Hôpital Beaujon], Hôpital Beaujon, Département de chirurgie générale [Gustave Roussy], Institut Gustave Roussy (IGR), Université Paris-Sud - Paris 11 (UP11), Service de chirurgie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Bicêtre, Service de pédiatrie, d'hématologie et d'oncologie [Hôpital de La Timone - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de pédiatrie [Institut Leon Bérard], Institut Leon Bérard, Service de chirurgie pédiatrique [CHU Strasbourg], Les Hôpitaux Universitaires de Strasbourg (HUS), Service de chirurgie pédiatrique [CHR de la Citadelle], Hôpital de la Citadelle, Service de chirurgie pédiatrique [Hôpital Lapeyronie-Arnaud de Villeneuve], Hôpital Lapeyronie [Montpellier] (CHU), Service de Chirurgie Pédiatrique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de chirurgie pédiatrique [CHU Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Service de chirurgie pédiatrique [CHU Besançon], Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Service de chirurgie pédiatrique [CHU Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), Pédiatrie et oncologie pédiatrique [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Curie [Paris], Hôpital Beaujon [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)-Hôpital Bicêtre, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Université Paris Descartes - Paris 5 ( UPD5 ), Université Pierre et Marie Curie - Paris 6 ( UPMC ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Unité de reccherche clinique / Centre d'investigation clinique[CHU Necker], Institut Gustave Roussy ( IGR ), Université Paris-Sud - Paris 11 ( UP11 ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre, Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Hôpital Lapeyronie [Montpellier] ( CHU ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), CHU Angers, Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon ), Centre Hospitalier Universitaire [Grenoble] ( CHU ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), and CHU Necker - Enfants Malades [AP-HP]

Subjects
pediatric, recurrence, [ SDV.MHEP.HEM ] Life Sciences [q-bio]/Human health and pathology/Hematology, solid pseudopapillary tumor, [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, pancreas, survival, [ SDV.CAN ] Life Sciences [q-bio]/Cancer
Abstract

International audience; BackgroundSolid pseudopapillary neoplasms of the pancreas (SPPN) can relapse very late, but little is known about risk factors for recurrence and optimal treatment. We aimed to identify risk factors for recurrence and to analyze treatment modalities in all French pediatric cases of SPPN over the past 20 years.Material and methodsData were collected from pediatric oncologists and surgeons, and also from adult pancreatic surgeons in order to identify late recurrences.ResultsFifty-one patients (41 girls) were identified. Median age at diagnosis was 13.1 years [8.7–17.9]. Abdominal pain was the commonest presenting symptom (32/49, 65%). The tumor was located in the pancreatic head in 24 patients (47%). Preoperative biopsy or cytology was performed in 14 cases (28%). All patients were operated with a median of 23 days [0–163] after diagnosis. The rate of postoperative morbidity was 29%. With a median follow-up of 65 months [0.3–221], the overall and event-free survival was 100% and 71%, respectively. Seven patients (13.7%) relapsed with a median of 43 months [33–94] after initial surgery. Six were treated surgically, either alone (n = 3) or with perioperative chemotherapy (n = 2) or hyperthermic intraperitoneal chemotherapy (n = 1). One patient in whom further treatment was not feasible was still alive at last news. Risk factors for recurrence were positive surgical margins (P = 0.03) and age less than 13.5 years at diagnosis (P = 0.03).ConclusionsSPPN recurrence in this pediatric series was a rare and late event that did not undermine overall survival. Complete surgical removal of recurrent tumors appears to be the best option.

Published
2016

33. Genomic Copy Number Profiling Using Circulating Free Tumor DNA Highlights Heterogeneity in Neuroblastoma

Author

Chicard, Mathieu, primary, Boyault, Sandrine, additional, Colmet Daage, Leo, additional, Richer, Wilfrid, additional, Gentien, David, additional, Pierron, Gaelle, additional, Lapouble, Eve, additional, Bellini, Angela, additional, Clement, Nathalie, additional, Iacono, Isabelle, additional, Bréjon, Stéphanie, additional, Carrere, Marjorie, additional, Reyes, Cécile, additional, Hocking, Toby, additional, Bernard, Virginie, additional, Peuchmaur, Michel, additional, Corradini, Nadège, additional, Faure-Conter, Cécile, additional, Coze, Carole, additional, Plantaz, Dominique, additional, Defachelles, Anne Sophie, additional, Thebaud, Estelle, additional, Gambart, Marion, additional, Millot, Frédéric, additional, Valteau-Couanet, Dominique, additional, Michon, Jean, additional, Puisieux, Alain, additional, Delattre, Olivier, additional, Combaret, Valérie, additional, and Schleiermacher, Gudrun, additional

Published
2016
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35. Outcome and prognostic factors of relapse in children and adolescents with mature b-cell lymphoma and leukemia treated in 3 consecutive prospective 'lymphomes malins B' protocols : A Société Française des Cancers de l’Enfant study

Author

Jourdain, Anne, Auperin, Anne, Minard-Colin, Véronique, Aladjidi, Nathalie, Zsiros, Josef, Coze, Carole, Gandemer, Virginie, Bertrand, Yves, Leverger, Guy, Bergeron, Christophe, Michon, Jean, and Patte, Catherine

Subjects
Life Sciences, Sciences du Vivant
Abstract

To describe relapsed B-cell lymphoma or leukemia in children/adolescents treated with a “Lymphomes Malins B” regimen and their outcome and to identify prognostic factors for survival, we studied relapses in the LMB89, 96 and 2001 studies of the Société Française d’Oncologie Pédiatrique (Société Française des Cancers de l’Enfant). Therapeutic guidelines at relapse were to obtain a second complete remission and to consolidate the remission with high-dose chemotherapy followed by autologous stem-cell transplantation. Between July 1989 and March 2007, 67 patients of 1322 (5%) relapsed: 57 had Burkitt lymphoma and 10 had large-cell histology. Three patients were initially treated in risk group A, 41 in group B and 23 in group C. Thirty-three patients had a relapse in one site (15 in the central nervous system) and 34 at multiple sites. Sixty-five patients received salvage chemotherapy and 33 achieved complete remission. Forty-one patients also received high-dose chemotherapy followed by autologous (n=33) or allogeneic (n=8) transplantation. With a median follow-up of 6.4 years, the 5-year survival rate was 29.9%. Nineteen patients were still alive, all but one (group A) received consolidation treatment. Multivariate analysis showed the following factors to be significantly associated with better survival: relapse at one site (P=0.0006), large-cell histology (P=0.012), initial prognostic group A or B with lactate dehydrogenase level below twice the normal value (P=0.005), and time to relapse more than 6 months (P=0.04).

Published
2015

36. Crizotinib in children and adolescents with advanced ROS1, MET, or ALK-rearranged cancer: Results of the AcSé phase II trial.

Author

Vassal, Gilles, primary, Faivre, Laura, additional, Geoerger, Birgit, additional, Plantaz, Dominique, additional, Auvrignon, Anne, additional, Coze, Carole, additional, Aladjidi, Nathalie, additional, Verschuur, Arnauld, additional, Icher, Celine, additional, Odile, Minckes, additional, Sirvent, Nicolas, additional, Schleiermacher, Gudrun, additional, Auger, Nathalie, additional, Lonchamp, Etienne, additional, Mahier - Ait Oukhatar, Celine, additional, Le Deley, Marie-Cecile, additional, Jimenez, Marta, additional, and Hoog Labouret, Natalie, additional

Published
2016
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37. Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated WithPHOX2BNon-Polyalanine Repeat Expansion Mutations

Author

Heide, Solveig, primary, Masliah-Planchon, Julien, additional, Isidor, Bertrand, additional, Guimier, Anne, additional, Bodet, Damien, additional, Coze, Carole, additional, Deville, Anne, additional, Thebault, Estelle, additional, Pasquier, Corinne Jeanne, additional, Cassagnau, Elisabeth, additional, Pierron, Gaelle, additional, Clément, Nathalie, additional, Schleiermacher, Gudrun, additional, Amiel, Jeanne, additional, Delattre, Olivier, additional, Peuchmaur, Michel, additional, and Bourdeaut, Franck, additional

Published
2015
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39. Detection of tumorALKstatus in neuroblastoma patients using peripheral blood

Author

Combaret, Valérie, primary, Iacono, Isabelle, additional, Bellini, Angela, additional, Bréjon, Stéphanie, additional, Bernard, Virginie, additional, Marabelle, Aurélien, additional, Coze, Carole, additional, Pierron, Gaelle, additional, Lapouble, Eve, additional, Schleiermacher, Gudrun, additional, and Blay, Jean Yves, additional

Published
2015
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40. Clinical Characteristics and Outcome of Patients with Neuroblastoma Presenting Genomic Amplification of Loci Other than MYCN

Author

Guimier, Anne, primary, Ferrand, Sandrine, additional, Pierron, Gaëlle, additional, Couturier, Jérôme, additional, Janoueix-Lerosey, Isabelle, additional, Combaret, Valérie, additional, Mosseri, Véronique, additional, Thebaud, Estelle, additional, Gambart, Marion, additional, Plantaz, Dominique, additional, Marabelle, Aurélien, additional, Coze, Carole, additional, Rialland, Xavier, additional, Fasola, Sylvie, additional, Lapouble, Eve, additional, Fréneaux, Paul, additional, Peuchmaur, Michel, additional, Michon, Jean, additional, Delattre, Olivier, additional, and Schleiermacher, Gudrun, additional

Published
2014
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41. Detection of tumor ALK status in neuroblastoma patients using peripheral blood.

Author

Combaret, Valérie, Iacono, Isabelle, Bellini, Angela, Bréjon, Stéphanie, Bernard, Virginie, Marabelle, Aurélien, Coze, Carole, Pierron, Gaelle, Lapouble, Eve, Schleiermacher, Gudrun, and Blay, Jean Yves

Subjects
TUMOR diagnosis, ANAPLASTIC lymphoma kinase, NEUROBLASTOMA, CRIZOTINIB, DNA, NONINVASIVE diagnostic tests, BLOOD testing, PERIPHERAL circulation
Abstract

New protocols based on ALK-targeted therapy by crizotinib or other ALK-targeting molecules have opened for the treatment of patients with neuroblastoma ( NB) if their tumors showed mutation and/or amplification of the ALK gene. However, tumor samples are not always available for analysis of ALK mutational status in particular at relapse. Here, we evaluated the ALK mutational status of NB samples by analysis of circulating DNA, using the droplet digital PCR (dd PCR) system. dd PCR assays was developed for the detection of ALK mutations at F1174 and R1275 hotspots found in NB tumors and was applied for the analysis of circulating DNA obtained from 200 μL of serum or plasma samples collected from 114 patients with NB. The mutations F1174L (exon 23 position 3520, T>C and position 3522, C>A) and the mutation R1275Q (exon 25 position 3824, G>A) were detected in circulating DNA. The sensitivity of our test was 100%, 85%, and 92%, respectively, and the specificity was 100%, 91%, and 98%, respectively. In conclusion, the assay that we have developed offers a reliable, noninvasive blood test to assess ALK mutational status at F1174 and R1275 hotspots and should help clinicians to identify patients showing an ALK mutation in particular when no tumor tissue is available. [ABSTRACT FROM AUTHOR]

Published
2015
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42. Clinical Characteristics and Outcome of Patients with Neuroblastoma Presenting Genomic Amplification of Loci Other than MYCN.

Author

Guimier, Anne, Ferrand, Sandrine, Pierron, Gaëlle, Couturier, Jérôme, Janoueix-Lerosey, Isabelle, Combaret, Valérie, Mosseri, Véronique, Thebaud, Estelle, Gambart, Marion, Plantaz, Dominique, Marabelle, Aurélien, Coze, Carole, Rialland, Xavier, Fasola, Sylvie, Lapouble, Eve, Fréneaux, Paul, Peuchmaur, Michel, Michon, Jean, Delattre, Olivier, and Schleiermacher, Gudrun

Subjects
HEALTH outcome assessment, NEUROBLASTOMA, GENE amplification, JUVENILE diseases, TRANSCRIPTION factors, BIOMARKERS, PATIENTS
Abstract

Background: Somatically acquired genomic alterations with MYCN amplification (MNA) are key features of neuroblastoma (NB), the most common extra-cranial malignant tumour of childhood. Little is known about the frequency, clinical characteristics and outcome of NBs harbouring genomic amplification(s) distinct from MYCN. Methods: Genomic profiles of 1100 NBs from French centres studied by array-CGH were re-examined specifically to identify regional amplifications. Patients were included if amplifications distinct from the MYCN locus were seen. A subset of NBs treated at Institut Curie and harbouring MNA as determined by array-CGH without other amplification was also studied. Clinical and histology data were retrospectively collected. Results: In total, 56 patients were included and categorised into 3 groups. Group 1 (n = 8) presented regional amplification(s) without MNA. Locus 12q13-14 was a recurrent amplified region (4/8 cases). This group was heterogeneous in terms of INSS stages, primary localisations and histology, with atypical clinical features. Group 2 (n = 26) had MNA as well as other regional amplifications. These patients shared clinical features of those of a group of NBs MYCN amplified (Group 3, n = 22). Overall survival for group 1 was better than that of groups 2 and 3 (5 year OS: 87.5%±11% vs 34.9%±7%, log-rank p<0.05). Conclusion: NBs harbouring regional amplification(s) without MNA are rare and seem to show atypical features in clinical presentation and genomic profile. Further high resolution genetic explorations are justified in this heterogeneous group, especially when considering these alterations as predictive markers for targeted therapy. [ABSTRACT FROM AUTHOR]

Published
2014
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43. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

Author

Brioude, Frédéric, Kalish, Jennifer M., Mussa, Alessandro, Foster, Alison C., Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E., Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D., Krajewska-Walasek, Malgorzata, Kratz, Christian P., Ladusans, Edmund J., and Lapunzina, Pablo

Subjects
*BECKWITH-Wiedemann syndrome, *MEDICAL screening, *DISEASE management, *MOLECULAR diagnosis, *DISEASE relapse, *SPACE surveillance, *PUBLIC health surveillance, *DIAGNOSIS
Abstract

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways. [ABSTRACT FROM AUTHOR]

Published
2018
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44. Clinical Characteristics and Outcome of Patients with Neuroblastoma Presenting Genomic Amplification of Loci Other than MYCN.

Author

Guimier, Anne, Ferrand, Sandrine, Pierron, Gaëlle, Couturier, Jérôme, Janoueix-Lerosey, Isabelle, Combaret, Valérie, Mosseri, Véronique, Thebaud, Estelle, Gambart, Marion, Plantaz, Dominique, Marabelle, Aurélien, Coze, Carole, Rialland, Xavier, Fasola, Sylvie, Lapouble, Eve, Fréneaux, Paul, Peuchmaur, Michel, Michon, Jean, Delattre, Olivier, and Schleiermacher, Gudrun

Subjects
*HEALTH outcome assessment, *NEUROBLASTOMA, *GENE amplification, *JUVENILE diseases, *TRANSCRIPTION factors, *BIOMARKERS, *PATIENTS
Abstract

Background: Somatically acquired genomic alterations with MYCN amplification (MNA) are key features of neuroblastoma (NB), the most common extra-cranial malignant tumour of childhood. Little is known about the frequency, clinical characteristics and outcome of NBs harbouring genomic amplification(s) distinct from MYCN. Methods: Genomic profiles of 1100 NBs from French centres studied by array-CGH were re-examined specifically to identify regional amplifications. Patients were included if amplifications distinct from the MYCN locus were seen. A subset of NBs treated at Institut Curie and harbouring MNA as determined by array-CGH without other amplification was also studied. Clinical and histology data were retrospectively collected. Results: In total, 56 patients were included and categorised into 3 groups. Group 1 (n = 8) presented regional amplification(s) without MNA. Locus 12q13-14 was a recurrent amplified region (4/8 cases). This group was heterogeneous in terms of INSS stages, primary localisations and histology, with atypical clinical features. Group 2 (n = 26) had MNA as well as other regional amplifications. These patients shared clinical features of those of a group of NBs MYCN amplified (Group 3, n = 22). Overall survival for group 1 was better than that of groups 2 and 3 (5 year OS: 87.5%±11% vs 34.9%±7%, log-rank p<0.05). Conclusion: NBs harbouring regional amplification(s) without MNA are rare and seem to show atypical features in clinical presentation and genomic profile. Further high resolution genetic explorations are justified in this heterogeneous group, especially when considering these alterations as predictive markers for targeted therapy. [ABSTRACT FROM AUTHOR]

Published
2014
Full Text
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45. Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement

Author

Christian P. Kratz, Monica Bertoletti, Jet Bliek, Khalid Hussain, Thomas Eggermann, Trevor Cole, Pablo Lapunzina, Edmund J. Ladusans, Fiona Macdonald, Dirk Prawitt, Guido Cocchi, Giovanni Battista Ferrero, Jennifer M. Kalish, Katrina Tatton-Brown, Katrin Õunap, Sylvie Rossignol, Karen Grønskov, Małgorzata Krajewska-Walasek, Alison Foster, Maurizio De Pellegrin, Irène Netchine, Saskia M. Maas, Robert Baker, Abdulla Ibrahim, Frédéric Brioude, Alessandro Mussa, Zeynep Tümer, Susanne E Boonen, Chiara Tortora, Licia Peruzzi, Agata Skórka, Deborah J G Mackay, Raoul C.M. Hennekam, Jair Tenorio, Yves Le Bouc, Mark D. Kilby, Carole Coze, Silvia Russo, Caroleen Shipster, Andrea Riccio, Eamonn R. Maher, Brioude, Frédéric, Kalish, Jennifer M, Mussa, Alessandro, Foster, Alison C, Bliek, Jet, Ferrero, Giovanni Battista, Boonen, Susanne E, Cole, Trevor, Baker, Robert, Bertoletti, Monica, Cocchi, Guido, Coze, Carole, De Pellegrin, Maurizio, Hussain, Khalid, Ibrahim, Abdulla, Kilby, Mark D, Krajewska-Walasek, Malgorzata, Kratz, Christian P, Ladusans, Edmund J, Lapunzina, Pablo, Le Bouc, Yve, Maas, Saskia M, Macdonald, Fiona, Õunap, Katrin, Peruzzi, Licia, Rossignol, Sylvie, Russo, Silvia, Shipster, Caroleen, Skórka, Agata, Tatton-Brown, Katrina, Tenorio, Jair, Tortora, Chiara, Grønskov, Karen, Netchine, Irène, Hennekam, Raoul C, Prawitt, Dirk, Tümer, Zeynep, Eggermann, Thoma, Mackay, Deborah J. G, Riccio, Andrea, Maher, Eamonn R., Kalish, Jennifer M., Foster, Alison C., Boonen, Susanne E., Kilby, Mark D., Kratz, Christian P., Ladusans, Edmund J., Bouc, Yves Le, Maas, Saskia M., MacDonald, Fiona, Hennekam, Raoul C., Mackay, Deborah J.G., Maher, Eamonn [0000-0002-6226-6918], and Apollo - University of Cambridge Repository

Subjects
0301 basic medicine, Beckwith-Wiedemann Syndrome, Consensus, DNA Copy Number Variations, Reproductive Techniques, Assisted, Endocrinology, Diabetes and Metabolism, Library science, 32 Biomedical and Clinical Sciences, Translational research, 030105 genetics & heredity, Polymorphism, Single Nucleotide, Bildung, 03 medical and health sciences, Rare Diseases, Endocrinology, Prenatal Diagnosis, Humans, Medicine, media_common.cataloged_instance, Pediatric nephrology, Child growth, European union, 3202 Clinical Sciences, media_common, Pediatric, business.industry, European research, Expert consensus, DNA Methylation, Neoplasms, Germ Cell and Embryonal, National health service, 3. Good health, Molecular Diagnostic Techniques, business
Abstract

Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways. Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this Consensus Statement, an international consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.

Published
2018

46. [Pediatric aphereses (workshop SFGM-TC)].

Author

Chabannon C, Benakli M, Alexandrova K, Coze C, Dalle JH, Giraud C, Huynh P, Kanouni T, Kanold J, Lesieur I, Levavasseur A, Yakoub-Agha I, and Baudoux E

Abstract

Practice of pediatric aphereses - in particular when caring for low-weight children - differs from the practice of adult aphereses, since pediatric aphereses represent low numbers of procedures, which has practical implications in terms of practical training and retraining for involved healthcare personnel, as needed for habilitation and validation of ongoing competencies. A specific training is mandatory in order to ensure both the child and the staff safety during and after collection, as well as ensure high quality of the collected cell product and that its meets predefined specifications that depend on its intended use. Low and very low-weight children deserve a particular attention for a number of procedural and clinical aspects: the nature and quality of venous accesses to ensure proper operation of the cell separator, management of hemodynamic fluctuations in relation with the relative importance of the extracorporeal blood volume as compared to the total blood volume of the child, risks and clinical manifestations of citrate toxicity, minimization of stress during the procedure that may include but is not limited to pharmacological sedation. The full spectrum of competencies needed to deal with these aspects is rarely present within a single team of healthcare professionals; it most often requires the tight combination of expertise drawing from the collection facility, the pediatric department and possibly the pediatric intensive care unit ward, whether from the same or from different institutions. Interactions must be formalized in a document that accurately describes which category of actors is responsible for each category of acts (prescriptions, decisions), depending on their initial qualifications, specific competencies, and affiliations., (Copyright © 2024 Société Française du Cancer. Published by Elsevier Masson SAS. All rights reserved.)

Published
2024
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47. Recurrence of Solid Pseudopapillary Neoplasms of the Pancreas: Results of a Nationwide Study of Risk Factors and Treatment Modalities.

Author

Irtan S, Galmiche-Rolland L, Elie C, Orbach D, Sauvanet A, Elias D, Guérin F, Coze C, Faure-Conter C, Becmeur F, Demarche M, Galifer RB, Galloy MA, Podevin G, Aubert D, Piolat C, De Lagausie P, and Sarnacki S

Subjects
Adolescent, Carcinoma, Papillary mortality, Child, Female, Humans, Male, Neoplasm Recurrence, Local etiology, Neoplasm Recurrence, Local mortality, Pancreatic Neoplasms mortality, Risk Factors, Carcinoma, Papillary therapy, Neoplasm Recurrence, Local therapy, Pancreatic Neoplasms therapy
Abstract

Background: Solid pseudopapillary neoplasms of the pancreas (SPPN) can relapse very late, but little is known about risk factors for recurrence and optimal treatment. We aimed to identify risk factors for recurrence and to analyze treatment modalities in all French pediatric cases of SPPN over the past 20 years., Material and Methods: Data were collected from pediatric oncologists and surgeons, and also from adult pancreatic surgeons in order to identify late recurrences., Results: Fifty-one patients (41 girls) were identified. Median age at diagnosis was 13.1 years [8.7-17.9]. Abdominal pain was the commonest presenting symptom (32/49, 65%). The tumor was located in the pancreatic head in 24 patients (47%). Preoperative biopsy or cytology was performed in 14 cases (28%). All patients were operated with a median of 23 days [0-163] after diagnosis. The rate of postoperative morbidity was 29%. With a median follow-up of 65 months [0.3-221], the overall and event-free survival was 100% and 71%, respectively. Seven patients (13.7%) relapsed with a median of 43 months [33-94] after initial surgery. Six were treated surgically, either alone (n = 3) or with perioperative chemotherapy (n = 2) or hyperthermic intraperitoneal chemotherapy (n = 1). One patient in whom further treatment was not feasible was still alive at last news. Risk factors for recurrence were positive surgical margins (P = 0.03) and age less than 13.5 years at diagnosis (P = 0.03)., Conclusions: SPPN recurrence in this pediatric series was a rare and late event that did not undermine overall survival. Complete surgical removal of recurrent tumors appears to be the best option., (© 2016 Wiley Periodicals, Inc.)

Published
2016
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48. Outcome of and prognostic factors for relapse in children and adolescents with mature B-cell lymphoma and leukemia treated in three consecutive prospective "Lymphomes Malins B" protocols. A Société Française des Cancers de l'Enfant study.

Author

Jourdain A, Auperin A, Minard-Colin V, Aladjidi N, Zsiros J, Coze C, Gandemer V, Bertrand Y, Leverger G, Bergeron C, Michon J, and Patte C

Subjects
Adolescent, Belgium epidemiology, Child, Child, Preschool, Female, Follow-Up Studies, France epidemiology, Hematopoietic Stem Cell Transplantation trends, Humans, Infant, Leukemia diagnosis, Lymphoma, B-Cell diagnosis, Male, Netherlands epidemiology, Prognosis, Prospective Studies, Recurrence, Remission Induction methods, Retrospective Studies, Salvage Therapy mortality, Salvage Therapy trends, Survival Rate trends, Treatment Outcome, Young Adult, Antineoplastic Combined Chemotherapy Protocols administration & dosage, Hematopoietic Stem Cell Transplantation mortality, Leukemia mortality, Leukemia therapy, Lymphoma, B-Cell mortality, Lymphoma, B-Cell therapy
Abstract

To describe relapsed B-cell lymphoma or leukemia in children/adolescents treated with a "Lymphomes Malins B" regimen and their outcome and to identify prognostic factors for survival, we studied relapses in the LMB89, 96 and 2001 studies of the Société Française d'Oncologie Pédiatrique (Société Française des Cancers de l'Enfant). Therapeutic guidelines at relapse were to obtain a second complete remission and to consolidate the remission with high-dose chemotherapy followed by autologous stem-cell transplantation. Between July 1989 and March 2007, 67 patients of 1322 (5%) relapsed: 57 had Burkitt lymphoma and 10 had large-cell histology. Three patients were initially treated in risk group A, 41 in group B and 23 in group C. Thirty-three patients had a relapse in one site (15 in the central nervous system) and 34 at multiple sites. Sixty-five patients received salvage chemotherapy and 33 achieved complete remission. Forty-one patients also received high-dose chemotherapy followed by autologous (n=33) or allogeneic (n=8) transplantation. With a median follow-up of 6.4 years, the 5-year survival rate was 29.9%. Nineteen patients were still alive, all but one (group A) received consolidation treatment. Multivariate analysis showed the following factors to be significantly associated with better survival: relapse at one site (P=0.0006), large-cell histology (P=0.012), initial prognostic group A or B with lactate dehydrogenase level below twice the normal value (P=0.005), and time to relapse more than 6 months (P=0.04)., (Copyright© Ferrata Storti Foundation.)

Published
2015
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