剪接因子突变与MDS关系研究的新进展  

New progress in the study of the relationship between splicing factor mutation and myelodysplastic syndrome

作　　者：李丽[1] 安立才 初晓霞[1] 

机构地区：[1]青岛大学医学院附属烟台毓璜顶医院血液科,山东烟台264000

出　　处：《临床血液学杂志》2018年第6期882-886,共5页Journal of Clinical Hematology

基　　金：山东省自然科学基金(No:ZH2015HL074);山东省自然科学基金(No:ZR2015HL035);烟台市科技发展计划(No:2014w024);烟台毓璜顶医院青年启动基金(No:201404);北京医学奖励基金(No:YJHYXKYJJ-105)

摘　　要：骨髓增生异常综合征(myelodyssolastic syndrome,MDS)是一组起源于骨髓造血干细胞的高度异质性的恶性克隆性疾病。MDS患者因髓系无效造血而导致外周血细胞减少,并且许多患者随着时间的推移骨髓中的恶性细胞逐渐增多,有30%~40%的MDS患者会转化为急性髓系白血病(acute myeloid leukemia,AML)。The myelodysplastic syndrome(MDS)is a group of heterogeneous myeloid malignant clonal diseases originating from bone marrow hematopoietic stem cells.With the wide application of second-generation sequencing technology in scientific and clinical researches,it has been proved that gene mutation plays an important role in the production and development of MDS and splicing factor mutations is the most common mutation found in MDS.New researches have shown that splicing factor mutations can lead to abnormal expansion of bone marrow hematopoietic stem/progenitor cells,pathological hematopoiesis and dysplastic differentiation,which are the markers of MDS.Importantly,recent evidences suggest that splicing inhibitors and splicing regulators can be useful in the treatment of myeloid malignancies with splicing factor mutations.This article reviews the recent advances in splicing factor mutations and the relationship between splicing factor mutations and the occurrence,development and treatment of MDS.

关 键 词：骨髓增生异常综合征 剪接因子 靶基因 突变 治疗 

分 类 号：R733.7[医药卫生—肿瘤]