【摘要】 目的检测JAK2V617F基因突变在BCR-ABL阴性的骨髓增殖性疾病中的表达水平,探讨其与MPD患者临床特征间的关系,为骨髓增殖性疾病的早期诊断、治疗提供有力依据。方法选择2010年1月至2013年1月我院门诊及住院的50例BCR-ABL阴性的MPD患者及血红蛋白浓度、白细胞计数、血小板计数增高的20例疑似患者,同时选择8例正常人外周血标本作为对照组,采用等位基因特异性聚合酶链反应(AS-PCR)技术检测其JAK2V617F基因突变情况,记录其血液学指标及临床特征。结果 BCR-ABL阴性的MPD患者中JAK2V617F基因突变阳性率为70%(35/50),其中真性红细胞增多症(PV)阳性突变率为85%(17/20),原发性血小板增多症(ET)阳性突变率为61.5%(16/26),原发性骨髓纤维化(IMF)阳性突变率为50%(2/4),疑似病例中阳性突变率为30%(6/20)。突变阳性的PV患者较突变阴性者的白细胞和血小板计数明显增高,突变阳性的ET患者较突变阴性者的白细胞计数和血红蛋白含量高,且突变阳性的ET患者更易发生肝脾肿大、出血、血栓形成等并发症。结论 JAK2V617F在BCR-ABL阴性的MPD患者中有较高的检出率,其阳性表达有望作为骨髓增殖性疾病早期诊断、鉴别诊断的重要依据,并在预后判断、减少并发症发生方面有一定意义。更多还原

【Abstract】 Objective To investigate the expression of JAK2 V617 F mutation in BCR-ABL negative patients with myeloproliferative disorders(MPD)and its relation with clinical characteristics of MPD,provide basis for early diagnosis and treatment of MPD.Methods 50 cases with BCR/ABL negative MPD,20 cases with elevated hemoglobin(Hb),white blood cell(WBC)counts or blood platelets count(BPC)but not meeting the criteria of MPD and 8 healthy people were enrolled in this study.The expression of JAK2V617 F mutation was examined by AS-PCR and the clinical parameter was collected comparatively.Results The incidence of JAK2 V617 F positive mutation in 50 patients with BCR-ABL negative MPD was70%(35/50),the positive rate o f JAK2V617 F mutation was 85%(17/20)in patients w ith PV,in patients with ET61.5%(16/26)and 50%(2/4)in patients w ith IMF,30%(6/20)in suspected cases.Patients with JAK2V617 F mutation in PV group had higher counts of white blood cell and platelet count in peripheral blood than patients without JAK2V617 F point mutation(P<0.05).Patients with JAK2V617 F mutation in ET group had higher counts of white blood cell,hemoglobin and higher incidence of complications such as bleeding,thmmbosis and hepatosplenomegaly than those without JAK2V617 F mutation(P<0.05).Conclusion JAK2V617 F mutation occurs in significant percentage of pateints with MPD,it is important for early diagnosis,difierential diagnosis of MPD and predicting prognosis and reducing complications.更多还原