BCR-ABL阴性骨髓增殖性疾病患者JAK2 V617F突变的检测及其临床意义  

JAK2 V617F mutation in BCR-ABL negative patients with myeloproliferative disorder and its clinic significance

作　　者：何祥萌[1] 张凌岩[1] 李英[1] 

机构地区：[1]山东大学附属省立医院血液科,山东济南250021

出　　处：《中国肿瘤生物治疗杂志》2009年第5期507-511,共5页Chinese Journal of Cancer Biotherapy

基　　金：山东省自然科学基金资助项目(No.Y2007C059)~~

摘　　要：目的:检测BCR-ABL融合基因阴性的骨髓增殖性疾病(myeloproliferative disorders,MPD)患者的JAK2V617F突变率,探讨其与MPD患者临床特征间的关系。方法:选择山东大学附属省立医院确诊的56例BCR-ABL阴性的MPD患者为研究对象,其中真性红细胞增多症(polycythaemia vera,PV)20例、原发性血小板增多症(essential thrombocythaemia,ET)26例,特发性骨髓纤维化(idiopathic myelofibrosis,IMF)10例。应用等位基因特异性PCR(allele-specific polymerase chain reaction,AS-PCR)和基因测序检测MPD患者JAK2V617F突变情况,分析各组MPD患者JAK2V617F突变与MPD临床特征间的关系。结果:56例MPD患者中36例检出JAK2V617F突变,突变率分别为ET患者53.8%(14/26),PV患者85%(17/20),IMF患者50%(5/10)。JAK2V617F突变阳性的MPD患者与突变阴性者相比,在血象方面:PV患者的白细胞(P=0.018)、血小板计数(P=0.021);ET患者的白细胞计数(P=0.001)、血红蛋白(P=0.007);IMF患者的白细胞计数(P=0.026)差异均有统计学意义。在并发症方面:ET组中JAK2V617F突变阳性的患者出血、血栓并发症的发生率更高(P=0.016),PV及IMF组中差异无统计学意义。结论:AS-PCR可有效检测JAK2V617F突变的发生,JAK2V617F突变阳性的MPD患者与突变阴性者在临床特征上有较明显的差异。Objective：To examine JAK2V617F mutation in BCRABL negative patients with myeloproliferative disorders （MPD） and its relationship with clinical characteristics of MPD.Methods： Fiftysix BCRABL negative MPD patients （who had been diagnosed in the Provincial Hospital Affiliated to Shandong University） were included in the present study. The patients included 20 with polycythaemia vera （PV）, 26 with essential thrombocythaemia （ET） and 10 with idiopathic myelofibrosis （IMF）. JAK2V617F mutation in MPD patients was detected by allelespecific polymerase chain reaction （ASPCR） and DNAsequencing, and its correlation with clinical characteristics of MPD was analyzed. Results： JAK2 V617F mutation was detected in 36 of the 56 BCRABL negative MPD patients, including 17 （17/20, 85%） with PV, 14 （14/26, 53.8%） with ET, and 5 （5/10, 50%） with IMF. The leukocyte （P=0.018） and platelet counts （P=0.021） were significantly different between JAK2V617 positive and negative MPD patients in PV group; the leukocyte counts （P=0.001） and hemoglobin （P=0.007） were significantly different in ET group; and the leukocyte counts were significantly different （P=0026） in IMF group. Significant difference was also found in the incidences of bleeding, thrombosis between JAK2V617 positive and negative patients in ET group（P=0.016）, but not in PV or IMF group. Conclusion： ASPCR is a sensitive and reliable technique in detecting JAK2 V617F mutation. The clinical characteristics of JAK2 V617F mutantion positive MPD patients are different from those without the mutation.

关 键 词：骨髓增殖性疾病 JAK2 V617F突变 BCR—ABL 等位基因特异性PCR 

分 类 号：R733.3[医药卫生—肿瘤] R730.54[医药卫生—临床医学]