摘要
ASXL1突变是骨髓增殖性肿瘤(MPN)的常见非驱动体细胞突变基因,其可与JAK2V617F等其他基因共突变,协同干扰造血干细胞(HSC)的增殖/分化、促使骨髓纤维化(MF)和白血病转化。ASXL1突变可影响MPN患者的临床亚型、血细胞计数、并发症、治疗反应及预后等多方面。ASXL1G646Wfs*12是最常见的ASXL1突变类型。笔者拟就ASXL1突变在MPN中的发生情况、作用机制及对MPN影响的研究现状进行阐述,旨在为MPN患者的诊断、预后评估和靶向治疗的选择等提供理论依据。
ASXL1 mutation is a common non-driving somatic cell mutation gene of myeloproliferative neoplasms(MPN).It can co-mutate with other genes such as JAK2V617F,and co-interfere with the proliferation and differentiation of hematopoietic stem cell(HSC),promote bone marrow fibrosis(MF)and leukaemia transformation.ASXL1 mutation can affect the clinical subtype,blood cell count,complications,treatment response and prognosis of MPN patients.The most common ASXL1 mutations type is ASXL1G646Wfs*12.This article intends to describe the occurrence,mechanism and impact of ASXL1 mutation in MPN,in order to provide theoretical basis for the diagnosis,prognosis evaluation and targeted treatment of MPN.
作者
白贝贝
陈翔宇
陈烨
Bai Beibei;Chen Xiangyu;Chen Ye(Department of Hematology,Beijing Anzhen Hospital,Capital Medical University,Beijing 100029,China;Sixth Clinical Medical College,Capital Medical University,Beijing 100069,China)
出处
《国际输血及血液学杂志》
CAS
2022年第6期476-481,共6页
International Journal of Blood Transfusion and Hematology
基金
首都医科大学"本科生科研创新"项目(XSKY2019199)。
