{Reference Type}: English Abstract
{Title}: [Suspicion of constitutional abnormality at diagnosis of childhood leukemia: Update of the leukemia committee of the French Society of Childhood Cancers].
{Author}: Strullu M;Cousin E;de Montgolfier S;Fenwarth L;Gachard N;Arnoux I;Duployez N;Girard S;Guilmatre A;Lafage M;Loosveld M;Petit A;Perrin L;Vial Y;Saultier P;
{Journal}: Bull Cancer
{Volume}: 111
{Issue}: 3
{Year}: 2024 Mar 23
{Factor}: 1.318
{DOI}: 10.1016/j.bulcan.2023.11.011
{Abstract}: 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.