[Genetic background and treatment of pediatric ALL]

Molecular genomic studies for acute lymphoblastic leukemia (ALL) have been focused on genetic alterations in leukemic cells, while germline cells are mainly used as a control to identify the somatic mutation. However, recent studies demonstrate that germline mutations may contribute to the pathogenesis of ALL, and currently, the genetic background has been found to play an essential role in the development of pediatric ALL. An association between polymorphism and adverse events has already been reported, and recent genomic analyses of familial ALL cases identified inherited causative genes for ALL. Moreover, non-syndromic/familial ALL cases may present pathogenic germline variants in cancer predisposition genes. These variants could not only contribute to poor response to treatment but also lead to an increased risk of secondary neoplasms. Comprehensive understanding of the biology in both ALL cells and germline cells is required.