JAK2V617F基因突变在骨髓增殖性疾病中的表达及临床意义  

Expression of JAK2V617F Mutation in the Patients with Myeloproliferative Disorder and its Clinical Significance

作　　者：李丽梅 金阿荣 阿茹娜 张继英 王秀梅[2] 

机构地区：[1]内蒙古自治区人民医院血液科,内蒙古呼和浩特010017 [2]内蒙古医学院附属人民医院肿瘤内科,内蒙古呼和浩特010020

出　　处：《内蒙古医学杂志》2015年第2期140-142,共3页Inner Mongolia Medical Journal

基　　金：内蒙古自治区人民医院院内基金项目(201314)

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。Objective To investigate the expression of JAK2 V617 Fmutation in BCR-ABL negative pa-tients 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 ele-vated hemoglobin（Hb） ,white blood cell（WBC） counts or blood platelets count（BPC） but not meeting the crite-ria of MPD and 8 healthy people were enrolled in this study .The expression of JAK2V617Fmutation was exam-ined by AS - PCR and the clinical parameter w as collected comparatively .Results T he incidence of JAK2 V617Fpositive mutation in 50 patients with BCR -ABL negative MPD was70% （35/50 ） ,the positive rate o f JAK2 V617 Fmutation was 8 5 % （ 1 7/2 0 ） in patients w ith PV ,in patients with ET 6 1 .5% （1 6/2 6 ） and 5 0%（2/4 ）in patients w ith IMF,30% （6/20 ） in suspected cases .Patients with JAK2 V617 Fmutation in PV group had higher counts of white blood cell and platelet count in peripheral blood than patients without JAK2 V617 Fpointmutation（P〈0 .05）.PatientswithJAK2V617FmutationinETgrouphadhighercountsofwhiteblood cell ,hemoglobin and higher incidence of complications such as bleeding ,thmmbosis and hepatosplenomegaly than those without JAK2 V617 Fmutation（ P〈0 .0 5 ） .Conclusion JAK2 V617 Fmutation occurs in significant percentage of pateints with MPD ,it is important for early diagnosis ,difierential diagnosis of MPD and predict-ing prognosis and reducing complications .

关 键 词：骨髓增殖性疾病 JAK2V617F 真性红细胞增多症 原发性血小板增多症 特发性骨髓纤维化 

分 类 号：R551.3[医药卫生—血液循环系统疾病]