RUNX1基因突变在髓系肿瘤中的研究新进展  

Research advances in RUNX1 mutation in myeloid neoplasms

作　　者：李青芸 卢绪章[1] 晁红颖[1] 陈梅玉 刘洁[1] Li Qingyun;Lu Xuzhang;Chao Hongying;Chen Meiyu;Liu Jie(Department of Hematology,Changzhou No.2 People′s Hospital,Nanjing Medical University,Changzhou 213003,Jiangsu Province,China)

机构地区：[1]南京医科大学附属常州市第二人民医院血液科,常州213003

出　　处：《国际输血及血液学杂志》2022年第1期24-28,共5页International Journal of Blood Transfusion and Hematology

基　　金：常州市社会发展项目(CE20205027);常州市卫健委科技项目(QN202035)。

摘　　要：RUNX1基因突变在骨髓增生异常综合征(MDS)、急性髓细胞白血病(AML)等多种血液肿瘤中发生率较高,并且提示患者预后不良。近年研究结果显示,RUNX1突变在髓系肿瘤的发生、发展中起重要作用,是其第Ⅱ类致病基因。笔者通过RUNX1蛋白结构与功能、不同髓系肿瘤中RUNX1突变的发生情况、RUNX1突变的致病机制、伴RUNX1突变的不同髓系肿瘤患者的临床特点及治疗策略等方面,对RUNX1突变在髓系肿瘤中的临床及相关分子学研究的新进展进行阐述。RUNX1 gene mutations are identified in some kinds of hematological malignancies,especially in myelodysplastic syndrome(MDS)and acute myeloid leukemia(AML)with high frequency,indicating poor prognosis of patients.Recent researches have shown that abnormalities of pathogenic genes such as RUNX1 play important roles in the development and progression of myeloid neoplasms,which was named as classⅡmutation.Through the structure and function of RUNX1 protein,the occurrence of RUNX1 mutation in different myeloid neoplasms,the pathogenic mechanism of RUNX1 mutation,and the clinical characteristics and treatment strategies of patients with different subtype of myeloid neoplasms with RUNX1 mutation,this article describes the clinical and molecular research progress of RUNX1 mutation in myeloid neoplasms.

关 键 词：核心结合因子α1亚基 核心结合因子α2亚基 突变 骨髓增生异常综合征 白血病 髓样 急性 RUNX1基因 

分 类 号：R739.42[医药卫生—肿瘤]