%0 English Abstract
%T [Suspicion of constitutional abnormality at diagnosis of childhood leukemia: Update of the leukemia committee of the French Society of Childhood Cancers].
%A Strullu M
%A Cousin E
%A de Montgolfier S
%A Fenwarth L
%A Gachard N
%A Arnoux I
%A Duployez N
%A Girard S
%A Guilmatre A
%A Lafage M
%A Loosveld M
%A Petit A
%A Perrin L
%A Vial Y
%A Saultier P
%J Bull Cancer
%V 111
%N 3
%D 2024 Mar 23
%M 38267311
%F 1.318
%R 10.1016/j.bulcan.2023.11.011
%X The spectrum of childhood leukemia predisposition syndromes has grown significantly over last decades. These predisposition syndromes mainly involve CEBPA, ETV6, GATA2, IKZF1, PAX5, RUNX1, SAMD9/SAMD9L, TP53, RAS-MAPK pathway, DNA mismatch repair system genes, genes associated with Fanconi anemia, and trisomy 21. The clinico-biological features leading to the suspicion of a leukemia predisposition are highly heterogeneous and require varied exploration strategies. The study of the initial characteristics of childhood leukemias includes high-throughput sequencing techniques, which have increased the frequency of situations where a leukemia predisposing syndrome is suspected. Identification of a leukemia predisposition syndrome can have a major impact on the choice of chemotherapy, the indication for hematopoietic stem cell transplantation, and screening for associated malformations and pathologies. The diagnosis of a predisposition syndrome can also lead to the exploration of family members and genetic counseling. Diagnosis and management should be based on dedicated and multidisciplinary care networks.