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。

abstractsRUNX1 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 class Ⅱ mutation. 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.