骨髓增殖性肿瘤患者止凝血功能的改变  

Study on Haemostatic Function in Patients with Myeloproliferative neoplasma

作　　者：邹丽芳[1] 姚一芸[1] 朱琦[1] 窦红菊[1] 陈琼[2] 胡钧培[1] 

机构地区：[1]上海交通大学医学院附属第九人民医院血液科,上海200011 [2]上海交通大学医学院附属第九人民医院检验科,上海200011

出　　处：《血栓与止血学》2014年第4期164-167,170,共5页Chinese Journal of Thrombosis and Hemostasis

摘　　要：目的回顾性研究骨髓增殖性肿瘤(MPN)患者的JAK2V617F突变率,及在有无伴有JAK2V617F突变患者的止凝血功能的改变。方法收集2008年2月至2013年5月我院48例MPN病人进行JAK2V617F突变的检测,并对其患者和正常对照组进行血常规(WBC,RBC和Hb及PLT)、常规出凝血指标(PT、aPTT、Fbg)及止凝血机制分子标志物(GMP-140、TF、TAT、AT、TFPI、PAP、D-D等)的检测。结果 (1)在48例MPN患者中,真性红细胞增多症(PV)20例,其中JAK2V617F突变阳性患者16例,占80%。原发性血小板增多症(ET)22例,其中JAK2V617F突变阳性患者12例,占54.5%。特发性骨髓纤维化(PMF)6例,其中JAK2V617F突变阳性患者2例,为33.3%。(2)无论患者有无JAK2V617F突变,均存在着血常规和止凝血机制的异常,与正常对照组相比差异有显著性(P<0.05或P<0.01)。且有JAK2V617F突变的患者较没有JAK2V617F突变的患者的血常规和止凝血机制的改变更明显一些,二者也有着显著的差异(P<0.05)。结论真性红细胞增多症(PV)、原发性血小板增多症(ET)及特发性骨髓纤维化(PMF)等Bcr-abl阴性的经典MPN患者中存在着较高的JAK2V617F突变率,并且无论有无JAK2V617F突变均存在着血常规的改变和血液中血小板活化、凝血亢进、抗凝的抑制及纤溶激活等止凝血功能的改变,且在JAK2V617F突变阳性的患者中这些改变更明显。Objective To investigate the frequency of JAK2V617F mutation in patients with myeloproliferative neoplasma（ MPN）,and explore the relationship between mutation and haemostatic changes. Methods JAK2V617F mutation were screened among 48 patients with MPN. Complete blood count,routine haemastatic tests,coagulable and fibrinolytic molecular markers were also measured. 30 healthy volunteers were enrolled as control. Results JAK2V617F mutation occured in 80%（ 16 /20） of polycythemia vera（ PV）,54. 5%（ 12 /22） of essential thrombocythemia（ ET）,and 33. 3%（ 2 /6） of primary myelofirosis（ PMF）. 2. Compared with normal control,alterations of Complete blood count,hemostasis occured in every patients,whether JAK2V617F mutation existed or not（ P〈 0. 05 or P 〈 0. 01）. Furthermore,significant changes were confirmed in patients with mutation than those without mutation（ P 〈 0. 05）. Conclusion JAK2V617F mutation occurs in significant percentage patients with MPN. Alterations of hemostasis including increased platelet aggregation,abnormal activation of coagulation cascade,decreased synthesis of anticoagulant proteins,abnormal activation of fibrinolysis are detected in every patients with MPN,no matter JAK2V617F mutation exists. However,the changes seems more remarkably in patients with JAK2V617F mutation.

关 键 词：骨髓增殖性肿瘤 JAK2V617F突变 血常规 止凝血功能 

分 类 号：R734.2[医药卫生—肿瘤]