JAK2 V617F突变研究进展及其诊治骨髓增殖性肿瘤的作用  

Research Progress on JAK2 V617F Mutation and Roles of Diagnosis and Treatments of Myeloproliferative Neoplasms

作　　者：买买提力.依马木 王晓敏[2] 

机构地区：[1]新疆医科大学研究生院,乌鲁木齐830054 [2]新疆维吾尔自治区人民医院血液科,乌鲁木齐830001

出　　处：《医学综述》2011年第15期2247-2249,共3页Medical Recapitulate

基　　金：新疆维吾尔自治区科技支疆项目计划(指令性)项目(200991142)

摘　　要：骨髓增殖性疾病(MPD)中,除慢性粒细胞性白血病有特异性染色体及基因标志而容易诊断外,其他几种MPD患者病程缓慢,临床表现不特异,缺乏特异性诊断指标,容易导致漏诊和误诊。2005年以来多个国际研究小组陆续报道该类MPD有高频获得性JAK2 V617F点突变,JAK2 V617F突变是JAK2基因突变的常见类型,对MPD具有重要的诊断价值。现对JAK2基因结构及功能、JAK2 V617F点突变及其临床意义、诊治MPD的作用等方面予以综述。In myeloproliferative disorders（MPD）,apart from the chronic myeloid leukemia which has specific chromosomes and genetic markers,other MPD has still easily lead to misdiagnosis and missed diagnosis because lack of specific diagnostic criteria.The information concerning molecular abnormalities of other MPD has been scanty until 2005,when a Janus kinase 2 mutations（JAK2 V617F）was discovered in the majority of patients with MPD,it was crucial for diagnosis and treatments of MPD.In this review,the structures and functions of JAK2 gene,the mechanism of JAK2 V617F point mutation,clinical significance,new advance of diagnosis and treatments of MPD were summarized.

关 键 词：JAK2 V617F点突变 骨髓增殖性肿瘤 治疗 JAK2抑制剂 

分 类 号：R551.3[医药卫生—血液循环系统疾病]