Médecine thérapeutique / Pédiatrie


Predisposition to childhood leukemia Volume 22, issue 2, Avril-Mai-Juin 2019

1 Hôpital d’Enfants de la Timone, Hématologie, immunologie, oncologie pédiatrique, 264 rue Saint-Pierre, 13385 Marseille
2 Aix Marseille Univ, INSERM, INRA, C2VN, Marseille
3 CONECT-AML (COllaborative Network for Children and Teenagers with Acute Myeloid Leukemia)
* Correspondance

Constitutional predisposition syndromes to childhood leukemia are increasingly recognized. Some predisposition syndromes affect several organs. The constitutional genetic defects can be chromosomal abnormalities or single-gene defects. These genetic defects interfere with key cellular functions such as DNA repair, ribosome biogenesis, telomere regulation, transcriptional regulation or cell proliferation. Recent advances in diagnosis, notably due to the development of next-generation sequencing, have facilitated the identification of these patients. Referral to an expert multidisciplinary team is essential to provide genetic counseling and coordinate care of such complex disorders. The hematological follow-up of these patients depends on the type and level of leukemic transformation risk.

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