Kato Motohiro
Children's Cancer Center, National Center for Child Health and Development.
Rinsho Ketsueki. 2018;59(10):2268-2272. doi: 10.11406/rinketsu.59.2268.
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.
急性淋巴细胞白血病（ALL）的分子基因组研究主要集中在白血病细胞的基因改变上，而生殖细胞主要用作对照来识别体细胞突变。然而，最近的研究表明，生殖细胞突变可能在ALL的发病机制中起作用，目前已发现遗传背景在儿童ALL的发展中起着至关重要的作用。多态性与不良事件之间的关联已有报道，最近对家族性ALL病例的基因组分析确定了ALL的遗传致病基因。此外，非综合征性/家族性ALL病例可能在癌症易感基因中出现致病性生殖细胞变异。这些变异不仅可能导致治疗反应不佳，还会增加继发肿瘤的风险。需要全面了解ALL细胞和生殖细胞中的生物学特性。
