Kratz Christian P, Izraeli Shai
Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
The Genes, Development and Environment Institute for Pediatric Research, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel; Human Molecular Genetics and Biochemistry, Sackler Medical School, Tel Aviv University, Tel Aviv, Israel.
Semin Hematol. 2017 Apr;54(2):123-128. doi: 10.1053/j.seminhematol.2017.04.008. Epub 2017 Apr 28.
In this article we discuss the occurrence of myeloid neoplasms in patients with a range of syndromes that are due to germline defects of the RAS signaling pathway and in patients with trisomy 21. Both RAS mutations and trisomy 21 are common somatic events contributing to leukemogenis. Thus, the increased leukemia risk observed in children affected by these conditions is biologically highly plausible. Children with myeloid neoplasms in the context of these syndromes require different treatments than children with sporadic myeloid neoplasms and provide an opportunity to study the role of trisomy 21 and RAS signaling during leukemogenesis and development.
在本文中，我们讨论了一系列因RAS信号通路种系缺陷所致综合征患者以及21三体综合征患者中髓系肿瘤的发生情况。RAS突变和21三体均为导致白血病发生的常见体细胞事件。因此，在受这些疾病影响的儿童中观察到的白血病风险增加在生物学上是非常合理的。患有这些综合征相关髓系肿瘤的儿童与散发性髓系肿瘤儿童需要不同的治疗方法，并且为研究21三体和RAS信号在白血病发生和发展过程中的作用提供了机会。
