骨髓增殖性肿瘤患者JAK2V617F基因突变及凝血功能研究

Study on JAK2V617F Gene Mutation and Coagulation Function in Patients with Myeloproliferative Neoplasms

目的探讨骨髓增殖性肿瘤(myeloproliferative neoplasm,MPN)患者JAK2V617F基因突变的发生及凝血功能。方法选择69例MPN患者为研究对象,其中真性红细胞增多症(PV)24例,原发性血小板增多症(ET)45例。采用等位基因特异性聚合酶链反应(allele-specific polymerase chain reaction,AS-PCR)技术,检测JAK2V617F基因突变情况。同时检测MPN患者凝血酶原时间(PT)、活化部分凝血酶时间(aPTT)、凝血酶时间(TT)、纤维蛋白原浓度(Fbg)、D二聚体(D-D)、血管性血友病因子(vWF)、抗凝血酶(AT),分析其与JAK2V617F基因突变之间的关系。结果 69例MPN患者中JAK2V617F基因突变率为66.6%(46/69),其中PV 20例,阳性率83.3%(20/24);ET 27例,阳性率60.0%(27/45)。MPN患者与正常对照组之间PT、aPTT、TT、D-D存在明显差异(P<0.05),vWF、ATⅢ无明显差异;MPN患者JAK2V617F基因突变阳性组与阴性组之间PT、aPTT、TT、存在明显差异(P<0.05),D-D、vWF、AT均无明显差异。白细胞计数在MPN患者JAK2V617F基因突变阳性组与阴性组之间存在明显差异(P<0.01)。结论 JAK2V617F基因突变在MPN患者中发生率高,可作为MPN诊断、鉴别诊断的重要依据。初诊MPN患者检测JAK2V617F基因突变、白细胞计数、凝血常规可初步评估MPN患者凝血功能,早期预防血栓形成。

Objective To study JAK2V617F gene mutation and coagulation function in patients with myeloproliferative neoplasms.Methods 69 patients with MPN were included in this study.The patients included 24 with polycythaemia vera（PV） and 45 with essential thrombocythaemia（ET）.JAK2V617F mutation in patients with MPN was detected by allele-specific polymerase chain reaction （AS-PCR）.PT,aPTT,TT,Fbg,vWF,AT were measured,and its correlation with JAK2V617F mutation was analyzed.Results JAK2V617F mutation was detected in 46 of 69 patients with MPN,including 20 （20/24,83.3 ％） with PV,27（27/45,60.0％） with ET.Between patients with MPN and that of the control group,PT,aPTT,TT,D-D were significantly different（P ＜0.05）,but vWF、ATⅢ had no difference.Between JAK2V617F positive and negative MPN patients,PT,aPTT,TT were significantly different （P ＜ 0.05） ; D-D,vWF and AT had no difference.Leukocyte counts had different between JAK2V617F positive and negative MPN patients （P ＜ 0.01）.Conclusion JAK2V617F mutation occurs in significant percentage of pateints with MPN,which is important in diagnosis and differential diagnosis of MPN.According to JAK2V617F mutation,leukocyte counts and coagulation convention,we can initially evaluate coagulation function in MPN patients,and prevent thrombosis.