Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study - 22/08/23
, Cyrielle Fouquet, MD 4, Yoann Vial, MD, PhD 2, 5, Jeanne Amiel, MD, PhD 2, 6, Louise Galmiche, MD 7, Célia Cretolle, MD, PhD 8, Thomas Blanc, MD, PhD 2, 8, Valérie Jolaine, DNM 1, Nicolas Garcelon, PhD 9, Natacha Entz-Werle, MD, PhD 10, Isabelle Pellier, MD, PhD 11, Cécile Vérité, MD 4, Sophie Taque, MD 12, Aurore Coulomb, MD, PhD 13, Arnaud Petit, MD, PhD 14, Nadège Corradini, MD, PhD 15, Naim Bouazza, PhD 2, 16, Brigitte Lacour, PhD 17, 18, Jacqueline Clavel, MD, PhD 17, 18, Laurence Brugières, MD 19, Franck Bourdeaut, MD, PhD 2, 20, Sabine Sarnacki, MD, PhD 2, 8the members of the TED Consortium∗
Abstract |
Objective |
To assess the associations between congenital abnormalities and pediatric malignancies and evaluate the potential underlying molecular basis by collecting information on pediatric patients with cancer and congenital abnormalities.
Study design |
Tumeur Et Développement is a national, prospective, and retrospective multicenter study recording data of children with cancer and congenital abnormalities. When feasible, blood and tumoral samples are collected for virtual biobanking.
Results |
From June 2013 to December 2019, 679 associations between pediatric cancers and congenital abnormalities were recorded. The most represented cancers were central nervous system tumors (n = 139; 20%), leukemia and myelodysplastic syndromes (n = 123; 18.1%), and renal tumors (n = 101; 15%). Congenital abnormalities were not related to any known genetic disorder in 66.5% of cases. In this group, the most common anomaly was intellectual disability (22.3%), followed by musculoskeletal (14.2%) and genitourinary anomalies (12.4%). Intellectual disability was mostly associated with hematologic malignancies. Embryonic tumors (neuroblastoma, Wilms tumor, and rhabdomyosarcoma) were associated with consistent abnormalities, sometimes with a close anatomical neighborhood between the abnormality and the neoplasm.
Conclusions |
In the first Tumeur Et Développement analysis, 3 major themes have been identified: (1) germline mutations with or without known cancer predisposition, (2) postzygotic events responsible for genomic mosaicism, (3) coincidental associations. New pathways involved in cancer development need to be investigated to improve our understanding of childhood cancers.
Le texte complet de cet article est disponible en PDF.Keywords : cancer predisposition, congenital malformation, embryogenesis, oncogenesis, pediatric cancer
Abbreviations : BWS, CNS, HB, HM, ID, MAR, NB, RB, RMS, RNCE, RT, STT, TED, WT
Plan
Vol 259
Article 113451- août 2023 Retour au numéro
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