JAK2V617F基因突变在骨髓增殖性肿瘤诊断中的应用

Application of JAK2V617F mutation to diagnosis of myeloproliferative neoplasms

目的采用等位基因特异性PCR(AS-PCR)检测骨髓增殖性肿瘤(MPN)中JAK2V617F基因突变,探讨其在MPN诊断中的应用价值。方法回顾性分析452例MPN患者的临床表现与JAK2V617F突变检测结果,结合血常规、骨髓及外周血形态分类等实验室检查,分析JAK2V617F突变与MPN患者临床特征的相关性,以及对MPN诊断和鉴别诊断的作用。结果 452例MPN患者JAK2V617F突变型有293例,总体阳性率64.8%。其中真性红细胞增多症(PV)、原发性血小板增多症(ET)和原发性骨髓纤维化(PMF)突变的阳性率分别为75.0%、59.5%和46.7%。PV组JAK2V617F突变阳性率明显高于其他两组。293例突变阳性患者中,脾脏肿大170例,骨髓增生极度活跃和明显活跃156例,比例均高于突变阴性患者,差异有统计学意义。PV患者中JAK2V617F突变组的白细胞(WBC)和血小板(Plt)数量高于野生组,差异有统计学意义;ET患者中JAK2V617F突变组的WBC和Hb含量高于野生组,差异有统计学意义。PMF患者中JAK2V617F突变组与野生组比较,差异无统计学意义。结论 AS-PCR能快速准确检测出JAK2V617F基因突变,其突变率与疾病类型和患者临床资料相关。

【Objective】To detect the JAK2V617 F mutation in myeloproliferative neoplasms（MPN） by allelespecific PCR（AS-PCR） and explore the diagnostic value of JAK2V617 F mutation in MPN. 【Methods】 The clinical manifestations and results of JAK2V617 F mutation were reviewed from 452 cases diagnosed as MPN.Combined with the blood routine, bone marrow morphology and other results of laboratory tests, the relationship between JAK2V617 F mutation and clinical characteristics and their roles for the diagnosis and differential diagnosis of MPN were analyzed. 【Results】 Of the 452 cases, 293 had JAK2V617 F mutation, the total frequency was 64.8%. The mutation frequency was 75.0% among the patients with polycythemia vera（135 / 180）,59.5% among the patients with essential thrombocythemia（21 / 93） and 46.7% among the patients with primary myelofibrosis（14 / 30）. The frequency of JAK2V617 F mutation was significantly higher in the patients with polycythemia vera than those with other two diseases. Among the 293 cases with mutation-type JAK2V617 F,170 cases had splenomegaly, 156 cases had hyperactivity of bone marrow and apparently active proliferation,the frequency was significantly higher than the cases with wild-type JAK2. The polycythemia vera patients with mutation-type JAK2V617 F had statistically higher leukocyte and platelet count than those with wild-type JAK2. The essential thrombocythemia patients with mutation-type JAK2 had significantly higher leukocyte count and hemoglobin content than those with wild-type JAK2. Compared to the primary myelofibrosis patients with wild-type JAK2, those with mutation-type JAK2 had no significant difference in leukocyte count,platelets count or hemoglobin content. 【Conclusions】 AS-PCR can rapidly and accurately detect JAK2V617 F mutation, and the mutation frequency has a relationship with the type of MPN and the clinical data of the patients.