87例骨髓增殖性肿瘤患者JAK2及MPL基因突变位点研究  

The expression of JAK2 and MPL mutation in 74 patients with myeloproliferative neoplasm

作　　者：夏亮[1] 吴竞生 丁凯阳[1] 蔡晓燕[1] 朱微波[1] 曾庆曙[2] 刘欣[1] 皖湘[1] 武琳琳[2] 

机构地区：[1]安徽医科大学附属省立医院血液科,合肥230032 [2]安徽医科大学附属第一医院血液科

出　　处：《临床血液学杂志》2010年第1期16-19,共4页Journal of Clinical Hematology

基　　金：安徽省临床医学重点学科应用技术项目(No:05A018);安徽省自然科学基金项目(No:070413257X);安徽省卫生厅临床应用技术项目(No:2008B018)

摘　　要：目的:探讨JAK2V617F及MPLW515L/K点突变在骨髓增殖性肿瘤(MPN)患者中的发生情况及临床意义。方法:回顾性统计分析87例MPN患者的临床及实验室检查资料,应用等位基因特异性-聚合酶链反应(AS-PCR)及序列测定方法,检测MPN患者骨髓/外周血单个核细胞JAK2V617F及MPLW515L/K点突变的发生情况,结合JAK2V617F及MPLW515L/K点突变阳性与阴性2组患者的临床及实验室检查指标,探讨其在疾病诊断及分子发病机制中的意义。结果:87例MPN患者[真性红细胞增多症(PV)36例,原发性血小板增多症(ET)33例,原发性骨髓纤维化(PMF)18例]中共检出55例患者存在JAK2V617F突变,总突变率为63.2%(55/87),其中PV28例,突变率77.8%(28/36);ET17例,突变率51.5%(17/33);PMF10例,突变率55.6%(10/18)。JAK2V617F阳性PV和ET患者WBC及Hb水平高于阴性患者(P<0.05);JAK2V617F阳性PMF患者WBC及PLT高于阴性患者(P<0.05)。JAK2V617F阳性MPN患者血栓发生率高于阴性患者(P<0.05)。24例JAK2阴性的ET及PMF患者中未能检测到MPLW515L/K。结论:MPN患者JAK2V617F发生率较高,JAK2V617F阳性MPN患者血细胞计数高于阴性患者,更易罹患血栓栓塞。Objective：To investigate the frequency and clinical implication of JAK2 and MPL mutation in patients with myeloproliferative neoplasm （MPN）. Method：The clinical and laboratory data of 86 MPN patients was retrospectively analyzed. Genomic DNA from bone marrow or blood of 86 MPN cases was screened with allelespecific polymerase chain reaction （AS-PCR）, and JAK2/MPL mutation were detected with gel electrophoresis. Among them there were 35 cases with polycythemia vera （PV）, 33 cases with essential thrombocytosis （ET）, and 18 cases with primary myelofibrosis （PMF）. Then the significance of this two mutations was discussed in diagnosis and molecular pathogenesis of MPN. Result.-JAK2 mutation was detected in 28（77.8%） of the 36 patients with PV, 17（51.5%） of the 33 with ET, and 10（55.6%） of the 18 with PMF. PV and ET patients with JAK2 gene had more leukocytes and higher hemoglobin than patients without it, while PMF patients with JAK2 gene had more leukocytes and platelets （P〈0. 05）. The frequency of thrombosis in MPN patients with OAK gene was higher than patients without it（P〈0.05）. None of the 22 JAK2 negative PV and ET patients had MPLW515L/ K. Conclusion：JAK2V617F mutation occurs in significant percentage of patients with myeloproliferative neoplasm. Patients with JAK2 gene have higher blood cells than patients without it and more likely have thrombosis.

关 键 词：骨髓增殖性疾病 骨髓增殖性肿瘤 突变 JAK2V617F MPLWS15L/K 

分 类 号：R551.3[医药卫生—血液循环系统疾病]