JAK2V617F点突变在真性红细胞增多症中的诊断价值

Clinical Value of JAK2V617F Mutation in Patients with Polycythemia Vera in Diagnose

目的：探讨JAK2酪氨酸激酶点突变（JAK2V617F点突变）在真性红细胞增多症（PV）中的临床价值。方法：运用实时定量聚合酶链式反应（RQ—PCR）检测25例血红蛋白量（HGB）男185～200g／L，女165～200g／L组（A组）及18例血红蛋白量男、女〉200g／L组PV患者（B组）、30例健康体检者（C组）外周血单个核细胞JAK2V617F点突变率；并比较PV患者中JAK2V617F点突变阳性组与阴性组之间的年龄、性别、血红蛋白量（HGB）、红细胞压积（HCT）、白细胞数（WBC）、血小板数（BPC）等临床特征。结果：43例Pv患者外周血单个核细胞中JAK2V617F点突变率为88％；25例A组及18例B组PV患者外周血单个核细胞中点突变率分别为88％，89％，两组间无统计学差异，P〉0．05，30例C组点突变均为阴性；43例PV患者中，JAK2V617F点突变阳性组与点突变阴性组比较，两组在发病年龄、HGB、HCT均无统计学差异；阳性组白细胞计数、血小板计数分别为（12．8±6．0）×10^9／L、（486±108）×10^9／L，均显著高于阴性组的（7．9±1．1）×10^9／L、（320±97）×10^9／L，P〈0．05。结论：JAK2V617F点突变结合血红蛋白量测定可以作为真性红细胞增多症的辅助诊断依据。JAK2V617F点突变阳性组与阴性组患者临床特征存在一定差异。

Objective： To investigate clinic value of JAK2V617F mutation in patients with polycythemia vera （PV）. Method： Real-time Quantitative PC R （RQ-PCR） was used to identify JAK2V617F mutation in patients with PV and control group. A group was the patients with PV whose hemoglobin male 185-200 g/L,female 165-200 g/L. B group was the patients with PV whose hemoglobin male and female〉200 g/L. C group was healthy control group. The clinical features were also compared in terms of age, sex, hemoglobin, hematocrit,white blood cells counts and blood plate counts between patients with PV of JAK2V617 mutation positive and those of JAK2V617 mutation negative. Results： JAK2 V617F mutation was detected in 38/43 （88%） patients with PV. While the JAK2 V617F mutation was not detected in any samples from control group. JAK2V617F mutation was no difference between group A and group B, P〉0.05. Age and hemoglobin were no difference between positive and negative of patients with PV of JAK2V617F mutation. However,there were significant difference in white blood cells counts （12.8±6.0）×10^9/L vs （7.9±1.1） ×10^9/L and blood platelet counts （486±2108）×10^9/L vs （320±97）×10^9/L,all P〈0.05.Conclusion： JAK2V617F mutation with hemoglobin can be used to diagnose in PV. There were some significance clinical difference in patients with PV of JAK2 V617F mutation positive and negative.