伴胚系DDX41突变髓系肿瘤的研究现状

Research status on myeloid neoplasms with germline DDX41 mutation

胚系DEAD盒RNA解旋酶(DDX)41突变在髓系肿瘤成年患者中检出率高达1.6%~6.0%,系统筛查DDX41突变有助于诊断伴胚系DDX41突变髓系肿瘤。DDX41参与前体mRNA剪接、固有免疫、核糖体生物合成和基因组稳定性调节,胚系DDX41突变可能促进髓系肿瘤的发生,并作为潜在的治疗靶点。笔者拟就伴胚系DDX41突变髓系肿瘤患者的临床特征、发病机制、诊治策略等研究现状进行阐述,旨在提高临床医师对此类遗传易感性髓系肿瘤的认识。

Recently,germline DEAD-box RNA helicase(DDX)41 mutation has been identified in myeloid neoplasms adult patients with a high detection rate ranging between 1.6%and 6.0%.Systematic screening for DDX41 mutation can help diagnosing myeloid neoplasms with germline DDX41 mutation.DDX41 is involved in pre-mRNA splicing,innate immunity,ribosome biogenesis,and genomic stability,which may contribute to the development of myeloid neoplasms and suggest potential targeted therapy.This article mainly elaborates research status on clinical characteristics,pathogenesis,diagnostic and therapeutic strategies of myeloid neoplasms patients with germline DDX41 mutation,in order to raise clinicians′awareness about myeloid neoplasms with germline predisposition.