真性红细胞增多症患者JAK2基因突变的临床意义  

Clinical significances of JAK2 mutation in patients with polycythemia vera

作　　者：岳静 王京华[1] Jing Yue;Jinghua Wang(Department of Hematology,the Second Affiliated Hospital of Harbin Medical University,Harbin 150000,China)

机构地区：[1]哈尔滨医科大学附属第二医院血液科,哈尔滨市150000

出　　处：《中国肿瘤临床》2018年第21期1109-1112,共4页Chinese Journal of Clinical Oncology

摘　　要：真性红细胞增多症(polycythemia vera,PV)为一种以红细胞增多为特征的骨髓增殖性肿瘤(myeloproliferative neoplasm,MPN)。PV的发病机制尚未阐明,可能和JAK2基因的功能获得性体细胞突变相关,JAK2基因突变为PV提供了分子学诊断标准。JAK2基因突变和等位基因突变负荷可推测PV患者的临床特征和发展趋势。JAK2基因突变的发现促进了分子靶向治疗的发展,JAK2抑制剂ruxolitinib已应用于临床,治疗效果和安全性均良好。JAK2等位基因突变负荷与白细胞增多、转化为骨髓纤维化(myelofibrosis,MF)密切相关,高JAK2等位基因突变负荷可能为PV患者预后不良的危险因素。本文对PV患者JAK2基因突变的临床意义进行综述。Polycythemia vera（PV） is a myeloproliferative neoplasm（MPN） characterized by overproduction of red blood cells. The pathogenesis of PV is not completely understood. However, studies report that it may be associated with the gain-of-function somatic mutation of JAK2 and that the JAK2 mutation provides a molecular diagnostic standard for PV. JAK2 mutation and allele mutation burden are useful for predicting clinical features and courses. The discovery of JAK2 mutation has promoted the development of molecular-targeted therapy, such as the JAK2 inhibitor, ruxolitinib, a drug with superior therapeutic effect and safety that is used in clinical practice. The JAK2 allele mutation burden is closely associated with leukocytosis and progression to myelofibrosis（MF）. A high JAK2 allele mutation burden may be a risk factor for poor prognosis. This article briefly reviews the clinical significance of the JAK2 mutation in patients with PV.

关 键 词：真性红细胞增多症 JAK2V617F基因突变 JAK2外显子12突变 JAK2抑制剂 临床意义 

分 类 号：R733.3[医药卫生—肿瘤]