骨髓增殖性肿瘤患者JAK2V617F突变和临床特征的关系

The relationship of JAK2V617F mutation and clinical characteristics in patients with myeloproliferative Neoplasms

目的:研究骨髓增殖性肿瘤(MPN)患者JAK2V617F突变发生率及其与临床特征的关系。方法:102例MPN患者采用等位基因特异性PCR(AS-PCR)方法检测JAK2V617F突变情况,突变阳性患者用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)分为纯合突变和杂合突变;回顾性分析102例MPN患者临床特征。结果:102例MPN患者中71例(69.6%)存在JAK2V617F突变,包括34/41例真性红细胞增多症PV(82.9%),25/41例ET(61.0%),11/18例PMF(61.1%)和1/2例CNL(50.0%)患者。其中T/T纯合突变12例(PV 9例、ET 1例、PMF 2例),其余均为T/G杂合突变。纯合突变的PV患者初诊时的白细胞计数(平均22.2×109/L)显著高于杂合突变者(14.8×109/L)。突变阳性的PV患者初诊时的白细胞计数(平均16.7×109/L)和血小板计数(平均446.7×109/L)显著高于突变阴性的PV患者(白细胞和血小板平均计数分别为8.0×109/L和270.0×109/L)。ET患者中,突变阳性者初诊时的血红蛋白值(平均144.3g/L)和白细胞计数(平均14.6×109/L)显著高于突变阴性者(124.9g/L和11.7×109/L),而且,突变阳性者有较高的并发症(血栓、出血、骨髓纤维化、转为白血病)发生率。PMF患者中,突变阳性者初诊时的白细胞计数(平均12.3×109/L)显著高于突变阴性者(6.3×109/L)。结论:MPN患者JAK2V617F发生率较高,JAK2V617F阳性MPN患者初诊时的血细胞计数高于阴性患者。突变阳性的ET患者预后更差。

Objective：To investigate the incidence of JAK2V617F mutation in myeloproliferative neoplasms（MPN） and its relation with clinical characteristics.Methods：The JAK2V617F mutation of 102 patients with MPN was detected by allele-specific polymerase chain reaction（AS-PCR） method.Mutation-positive patients were divided into homozygous mutant and heterozygous mutant by polymerase chain reaction-restriction fragment length polymorphism analysis（PCR-RFLP）.And a retrospective study was performed on the clinical characteristics in 102 patients with MPN.Results：Of 102 patients with MPN 71（69.6%） of JAK2V617F mutation exists,including cases of PV thirty four/forty firsts（82.9%）,twenty five/forty firsts ET（61.0%）,eleven/eighteenths PMF（61.1%） and one/second cases of CNL（50.0%） patients.T/T homozygous mutation in 12 cases（PV9 cases,ET1case,PMF2 cases）,and the rest were T/G mutation of heterozygotes.Homozygous mutations in newly diagnosed patients with PV white blood cell count（average 22.2 × 109/L）,was significantly higher than the heterozygotes（14.8 × 109/L）.JAK2V617F mutation-positive PV of newly diagnosed patients with white blood cells count（average 16.7 × 109/L） was and platelet count（446.7 × 109/L on average） significantly higher than mutation-negative patients with PV（white cell and platelet counts 8.0 ×109/L and 270.0 × 109/L,respectively）.ET patients,hemoglobin values when the mutation-positive patients newly diagnosed（average 144.3g/L） and the white blood cell count（14.6 × 109/L on average） was significantly higher than negative mutations（124.9g/L and 11.7 × 109/L）,and the mutation-positive have a higher rate of complications（thrombosis,bleeding,bone marrow fibrosis,to leukemia） incidence.With PMF,mutation-positive patients newly diagnosed white blood cell count（12.3 × 109/L on average） significantly higher than mutation-negative（6.3 × 109/L）.Conclusion：MPN patients have a higher incidence of JAK2V617F.JAK2V617F-positive blood cell counts in patients with MPN are higher than JAK2V617F-negative patients.The prognosis of mutation-positive ET patients is worse.