原发性血小板增多症与血栓形成的相关性研究

Correlation Between Essential Thrombocythemia and Thrombosis

目的探讨原发性血小板增多症（ET）患者血栓形成的相关因素，以及其在汉族与维吾尔族之间的差异。方法选择2008年1月至2012年12月，于本院确诊的66例ET患者作为研究对象（本研究遵循的程序符合本院人体试验委员会所制定的伦理学标准，得到该伦理会批准，并与受试对象签订临床研究知情同意书）。采用统一设计的调查表收集患者的性别、年龄、民族、外周血常规、骨髓形态学＋活体组织检查、心电图、超声、头颅计算机断层扫描（CT）／磁共振（MR）、BcR／ABI。融合基因、Ph一染色体、JAK2V617F基因突变结果、既往血栓史及基础血管病史等信息，并随访54个月，观察患者血栓事件的发生情况，分析ET患者血栓形成的相关因素。结果①本组患者的JAK2V617F突变发生率为71．2％（47／66）。汉族ET患者突变阳性率高于维吾尔族患者（76．3％比64．3％），但差异无统计学意义（x^2=1．138，P〉0．05）。②随访54个月后，发现16例患者出现不同部位的血栓事件，发生率为24．2％，血管并发症及转归情况在汉族和维吾尔族患者之间的差异无统计学意义（x^2=1．490，0．048；P〉0．05）。③JAK2V617F基因突变阳性、年龄≥60岁、白细胞（WBC）计数≥11×10^9／L、既往血栓史及合并有血管危险因素的ET患者易发生血栓栓塞事件（OR=4．292，95％CI：1．547～11．903；OR=6．800，95％CI：0．868～4．697；OR=4．460，95％CI：1．538～3．031；OR-4．364，95％CI：1．448～10．84；OR=3．494，1．509～8．092）。结论ET患者中有较高的JAK2V617F基因突变率，该突变阳性、年龄≥60岁、WBC≥11×10^9／L、既往有血栓史及合并有血管危险因素的患者血栓发生风险较高，应尽早予以干预治疗。JAK2V617F突变率、血管并发症及转归等情况在汉族和维吾尔族患者之间的差异不显著。

Objective To investigate the correlation between thrombosis and essential thrombocythemia （ET）, and these differences between the Chinese Han and Uygur ethnic groups in Xinjiang. Methods From January 2008 to December 2012, a total of 66 patients who were diagnosed as ET in our hospital were included into this study. All of the patient＇s clinical data of gender, age, ethnieity, peripheral blood routine, bone marrow morphology and biopsy, electrocardiography, type-B ultrasonography, head computed tomography （CT）/magnetic resonance （MR）, BCR/ABL fusion gene, Ph- chromosome, JAK2 V617F mutation, history of thrombosis and cardiovascular disease, and other information, were collected by unified design questionnaires and analyzed. Follow-up of 54 months, the patients＇ incidence of thromboembolic events were observed, and related factors between ET patients and thrombosis were analyzed. The study protocol was approved by the Ethical Review Board of Investigation in Human Being of the People＇s Hospital of Xinjiang Uygur Autonomous Region. Informed consent was obtained from all participants. Results （1） J AK2 V617F mutation was detected in 47（71.2 %） patients. The incidence of mutation in Chinese Han was higher than in Uyghur （76.3% vs. 64.3%）, but the difference was not significant （7.2： 1. 138,P〉0. 05）. （2） Followed for a median of 54 months [-（3-148） months], 16 patients developed thrombotic events. There were no significant in the two ethnic groups both of the vascular events and transformation （7.2 =1. 490,0. 048; P〉0.05）. （3） Together with the high-risk condition such as age （≥60 years） and previous vascular events, white blood cell （WBC） value above 11 × 10^9/L and JAK2 V617F were significantly correlated with a higher thrombotic risk by logistic regression （OR=4.292, 95%CI： 1.547-11.903; 0R=6.800, 95%CI： 0.868-4.697; 0R=4.460, 95%CI： 1.538- 3. 031; OR= 4. 364, 95%CI： 1. 448-10. 84; 0R=3. 494,95MCI： 1. 509-8. 092）. Conclusions JAK2 V617F mutation occurs in significant percentage of patients with ET and patients with JAK2 V617F mutation are more susceptible to thrombosis. They were no significantly difference between Chinese Han and lJyghur minorities both of mutation rate, vascular events and transformation. Patients with JAK2 V617F＋ , age≥60 years, WBC≥11 × 10^9/L, previous vascular events and with cardiovascular risk factors were probably has higher rate of thromboembolism events, should given early intervention about antithrombotic treatment.