JAK2V617F突变背景下骨髓增殖性肿瘤临床表型异质性的研究进展  

Advances in clinical phenotypic heterogeneity of myeloproliferative neoplasms in the context of JAK2V617F mutation

作　　者：相丹红(综述) 黄健(审校)[2] XIANG Dan-hong;HUANG Jian(Department of Hematology,the Fourth Affiliated Hospital,Zhejiang University School of Medicine,Zhejiang 322000,China)

机构地区：[1]浙江大学医学院附属第四医院血液内科,浙江322000 [2]浙江大学医学院附属第一医院血液内科,浙江310000

出　　处：《中国临床新医学》2023年第5期521-525,共5页CHINESE JOURNAL OF NEW CLINICAL MEDICINE

基　　金：浙江省科技计划项目(编号:2022C03137);浙江省基础公益研究计划项目(编号:LGF21H080003);金华市科学技术研究计划项目(编号:2020-3-011)。

摘　　要：费城染色体阴性骨髓增殖性肿瘤(MPNs)是一组以造血干细胞克隆性增殖为主要特征的慢性血液肿瘤。JAK2V617F突变常见于MPNs,是诊断标准之一,其通过突变频率影响MPNs表型异质性。此外,信号通路、表观遗传学修饰、免疫异常、生活方式和其他一些因素也参与JAK2V617F相关的MPNs的异质性。该文对JAK2V617F影响MPNs表型的研究进展作一综述。Breakpoint cluster region-Abelson(BCR-ABL)negative myeloproliferative neoplasms(MPNs)are a group of chronic blood cancer,characterized by clonal proliferation of hematopoietic stem progenitor cells.The mutation of JAK2V617F is common in MPNs and is one of the major diagnostic criteria for MPNs.JAK2V617F affects the phenotypic heterogeneity in MPNs through mutation frequency.In addition,signaling pathway,epigenetic modifications,immune abnormality,lifestyle and other factors also play roles in phenotypic heterogeneity.In this paper,we review the advances in the effect of JAK2V617F on MPNs phenotype.

关 键 词：骨髓增殖性肿瘤 JAK2V617F 表型异质性 

分 类 号：R551.3[医药卫生—血液循环系统疾病]