真性红细胞增多症患者JAK2基因突变的临床意义

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。 

Clinical significances of JAK2 mutation in patients with polycythemia vera

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.