骨髓增生异常综合征的分子生物学研究：现况与启示

The molecular basis of myelodysplastic syndromes： current state and enlightenment

应用第2代测序技术对大系列骨髓增生异常综合征（MDS）患者的研究初步揭示了MDS发病的分子基础.约90％的MDS患者至少存在≥1个基因突变,最常受累基因有SF3B1、TET2、SRSF2、ASXL1、DNMT3A和RUNX1.随着MDS克隆演变和受累基因功能研究的深入,有望进一步完善MDS患者的预后判断和治疗方案的制定.

The molecular basis of myelodysplastic syndromes （MDS） is revealed by whole genome sequencing or targeted gene sequencing in several large cohort of patients with MDS.About 90 ％ of MDS patients carry ≥ 1 oncogenic mutations,the consistently mutated genes are SF3B1,TET2,SRSF2,ASXL1,DNMT3A and RUNX1.The further studies of clonal architecture of MDS and the functions of the involved genes might considerably improve prognostication of MDS and more generally clinical decision-making in this field.