真性红细胞增多症患者JAK2基因突变的临床意义 |
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引用本文: | 岳静,王京华.真性红细胞增多症患者JAK2基因突变的临床意义[J].中国肿瘤临床,2018,45(21):1109-1112. |
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作者姓名: | 岳静 王京华 |
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作者单位: | 哈尔滨医科大学附属第二医院血液科(哈尔滨市 150000) |
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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。
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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 |
收稿时间: | 2018-09-09 |
Clinical significances of JAK2 mutation in patients with polycythemia vera |
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Institution: | Department of Hematology, the Second Affiliated Hospital of Harbin Medical University, Harbin 150000, China |
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Abstract: | 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. |
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