Suspicion of constitutional abnormality at diagnosis of childhood leukemia: Update of the leukemia committee of the French Society of Childhood Cancers
Bull Cancer. 2024 Jan 23:S0007-4551(24)00004-3. doi: 10.1016/j.bulcan.2023.11.011. Online ahead of print.ABSTRACTThe 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.PMID:38267311 | DOI:10.1016/j.bulcan.2023.11.011
Source: Bulletin du Cancer - Category: Cancer & Oncology Authors: Marion Strullu Elie Cousin Sandrine de Montgolfier Laurene Fenwarth Nathalie Gachard Isabelle Arnoux Nicolas Duployez Sandrine Girard Audrey Guilmatre Marina Lafage Marie Loosveld Arnaud Petit Laurence Perrin Yoan Vial Paul Saultier Source Type: research
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