慢性骨髓增殖性肿瘤JAK2V617F突变与血栓形成的关系  

Relationship between JAK2V617F mutation and thrombopoiesis in patients with chronic myeloprolifrative neoplasms

作　　者：沈益民[1] 晁红颖[1] 张日[1] 冯宇峰[1] 岑建农[1] 姚利[1] 沈宏杰[1] 朱子玲[1] 

机构地区：[1]苏州大学附属第一医院血液科江苏省血液病研究所卫生部血栓与止血重点实验室,215006

出　　处：《江苏医药》2009年第8期880-883,共4页Jiangsu Medical Journal

摘　　要：目的研究慢性骨髓增殖性肿瘤(MPN)患者JAK2V617F突变及其突变转录本水平与血栓形成的关系。方法105例MPN患者外周血或部分冻存标本采用突变特异性扩增系统(ARMS)PCR方法检测JAK2V617F的突变类型,毛细管电泳法定量分析JAK2V617突变转录本水平。结果有血栓形成的真性红细胞增多症(PV)、特发性血小板增多症(ET)患者年龄和白细胞(WBC)计数高于无血栓形成患者(P<0.05),WBC≥15×109/L的ET患者血栓发生率高于WBC<15×109/L者(P<0.05),JAK2V617F阳性患者血栓发生率高于阴性患者(P<0.05),有血栓事件者JAK2V617F转录本水平高于无血栓事件者(P<0.05),JAK2V617F阳性患者血栓事件风险度高于JAK2V617F阴性患者(OR=11.30),突变转录本水平在(60～100)%组患者血栓事件风险度高于JAK2V617F阴性组患者(OR=31.5)。结论高龄、WBC计数增高,JAK2V617F突变及高转录本水平MPN患者血栓风险可能较高。Objective To investigate the relationship between thrombopoiesis and JAK2V617F mutation in patients with chronic myeloproliferative neoplasms（MPN）. Methods Peripheral blood samples and part of freezed samples were collected from 105 patients with MPN. JAK2V617F mutation and status were screened with amplification-refractory mutation sequencing polymerase chain reaction （ARMS-PCR） and the relative quantation of mutated JAK2 mRNA was studied by capillary electrophoresis. Results Polycythemia veva（PV） and essentialthrombo-cythaemia（ET） patients with thrombopoiesis had higher white blood celI（WBC） count and older age （P〈0. 05）. ET patients with a WBC count≥15×10^9/L had significant more thrombopoiesis than those with a WBC count〈 15 ×10^9/L （P〈0.05）. The prevalence of thrombotic complications in JAK2-positive patients was higher than that in wild-type patients （P〈0.05）. Compared with the patients without thrombopoiesis, the levels of mutated JAK2 mRNA in the patients with thrombopoiesis were higher. A significant increase at risk for thrombopoiesis was seen in the patients carrying JAK2V617F （P〈0.05）. The relative risk （odds ratio,OR） of thrombopoiesis in the patients with mutated mRNA ratio ranged from 60% to 100% was significantly higher than that in the patients without JAK2V617F mutation （OR = 31.5 ）. Conclusion Older age,increased WBC count,JAK2V617F mutation and higher level of mutated JAK2 mRNA were probably the higher risk factors for thrombopoiesis.

关 键 词：慢性骨髓增殖性肿瘤 JAK2V617F 血栓 

分 类 号：R551[医药卫生—血液循环系统疾病]