【摘要】 目的:探讨BCR-ABL阴性的骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)患者蛋白质酪氨酸激酶基因(JAK2)V617F突变的发生率及其与患者临床特征的关系。方法:抽提65例MPN患者骨髓细胞DNA(其中真性红细胞增多症28例,特发性血小板增多症30例,特发性骨髓纤维化7例),应用等位基因特异性PCR技术(allelespecific PCR,AS-PCR)分析JAK2基因V617F突变的发生率,并分析此突变与外周血细胞计数及血栓发生率等临床特征的关系。结果:65例MPN患者的V617F突变阳性率为64.62%(42/65)。其中真性红细胞增多症患者的阳性率为75.00%(21/28),其白细胞及血小板计数较非突变者均显著增高(P<0.001);特发性血小板增多症患者该突变的阳性率为56.67%(17/30),其白细胞计数和血红蛋白水平均较非突变者显著增高(P<0.05);而7例特发性骨髓纤维化患者中4例被检出此突变阳性,其白细胞、血小板计数及血红蛋白水平与非突变者比较,差异则无统计学意义。同时,携带V617F突变的MPN患者血栓发生率明显高于非突变者(P<0.05)。结论:JAK2基因V617F突变是我国BCR-ABL阴性MPN患者主要的分子遗传标志,可作为临床诊断的指标之一,而此突变对临床特征有一定影响。更多还原

【Abstract】 Objective:To investigate the relationship between V617F mutation in JAK2 gene and clinical characteristics in patients with BCR-ABL-negative myeloproliferative neoplasms(MPN).Methods:Sixty-five patients with MPN,including 28 subjects with polycythemia vera(PV),30 subjects with essential thrombocythemia(ET) and 7 subjects with idiopathic myelofibrosis(IMF) were enrolled in this study.Bone marrow cell DNA was extracted from MPN patients,and V617F mutation in JAK2 gene was identified by allele specific PCR(AS-PCR).The correlation between V617F mutation and clinical characteristics such as peripheral blood cell count and incidence of thrombosis were analyzed.Results:Of the 65 patients,42 subjects harbored V617F mutation(64.62%).The positive rates of V617F mutation in PV and ET patients were 75.00%(21 subjects) and 56.67%(17 subjects),respectively.Four of the 7 patients with IMF were V617F mutation positive.For PV patients,the levels of white blood cell count and platelet count in V617F mutation carriers were significantly higher than that in non-carriers(P<0.05).For ET patients,the levels of white blood cell count and hemoglobin in V617F mutation carriers were significantly higher than that in non-carriers(P<0.05).For IMF patients,however,no significant differences were found between mutation carriers and non-carriers.The incidence of thrombosis in V617F mutation carriers was higher than that in non-carriers(P<0.001).Conclusions:V617F mutation in JAK2 is a major molecular genetic marker for Chinese patients with BCR-ABL-negative myeloproliferative neoplasms.This mutation has impacts on clinical characteristics and can be used as a criterion for the diagnosis of BCR-ABL-negative myeloproliferative neoplasm.更多还原