ASXL1突变促进高危MDS患者疾病进展的机制及潜在治疗靶点  

Mechanism of ASXL1 mutation in promoting disease progression in high-risk MDS patients and potential therapeutic target

作　　者：黄龄乐(综述) 王利(审校)[1] HUANG Lingle;WANG Li(Department of Hematology,the First Affiliated Hospital of Chongqing Medical University,Chongqing 400016,China)

机构地区：[1]重庆医科大学附属第一医院血液内科,400016

出　　处：《重庆医学》2023年第8期1242-1247,共6页Chongqing medicine

基　　金：重庆市科卫联合项目(2018ZDXM001);重庆市自然科学基金项目(cstc2018jcyjAX0688)。

摘　　要：骨髓增生异常综合征(MDS)是一种异质性的髓系克隆性造血疾病,以骨髓造血功能异常、外周血细胞减少及急性髓系白血病转化风险增加为特点。附加性梳样结构1(ASXL1)突变是MDS患者常见基因突变,尤其在国际预后积分系统(IPSS)危险分层的高危组或进展期患者中发生频率更高,且提示预后不良。ASXL1突变蛋白通过干扰与组蛋白相互作用,影响染色质凝缩状态调控基因表达。该文对ASXL1突变在高危MDS患者中的生理病理机制做一综述,并总结了潜在治疗靶点。Myelodysplastic syndrome(MDS)is a heterogeneous myeloid clonal hematopoietic disease characterized by abnormal hematopoietic function of bone marrow,peripheral blood cells decrease and acute myeloid leukemia transforming risk increase.The additional sex combs-like 1(ASXL1)mutation is a common gene mutation in MDS patients,its occurrence frequency is higher especially in the high-risk group or progressive stage patients of the International Prognostic Scoring System(IPSS),moreover which indicating a poor prognosis.The ASXL1 mutant protein affects the condensation of chromatin to regulated gene expression by interfering with the interaction with histones.This article reviews the physiological and pathological mechanisms of ASXL1 mutation in high-risk MDS patients,and summarizes the potential therapeutic targets.

关 键 词：骨髓增生异常综合征 附加性梳样结构1 突变 治疗 综述 

分 类 号：R551.3[医药卫生—血液循环系统疾病]