骨髓增殖性肿瘤患者JAK2V617F基因突变与血栓栓塞相关性研究

Correlative study between JAK2 mutation and thrombosis in patients with myeloproliferative neoplasm

目的 探讨骨髓增殖性肿瘤（MPN）患者JAK2V617F点突变发生情况及与血栓栓塞之间的相关性.方法 回顾性统计分析107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JAK2V617F点突变发生情况,结合JAK2V617F点突变阳性与阴性两组患者血栓栓塞发生情况,探讨其在疾病诊断及与血栓栓塞发生之间的意义.结果 ①107例MPN患者中共检出71例患者存在JAK2V617F突变,总突变率为66.4%.107例MPN患者共发现34例患者存在血栓栓塞（发生率为31.8%）.②血栓发生率真性细胞增多症（PV）组为34.8%,原发性血小板增多症（ET）组32.6%,原发性骨髓纤维化（PMF）组22.2%,三组间χ^2=0.96,P＞0.05.34例血栓患者中,JAK2V617F阳性患者28例,阴性患者6例,两组间χ^2=5.71,P＜0.05.65例年龄≥60岁患者27例并发血栓栓塞（41.5%）,42例年龄＜60岁者中7例并发血栓栓塞（16.7%）,两组间比较χ^2=7.28,P＜0.01.结论 MPN患者JAK2V617F发生率较高,JAK2V617F阳性及高龄（≥60岁）患者更易并发血栓栓塞,对不明原因血栓患者进行JAK2筛查可明确是否存在早期不典型MPN.

Objective To investigate the frequency and clinical implication of JAK2 mutation in patients with myeloproliferative neoplasm （MPN）and the correlation between the mutation and thrombosis.Methods The clinical and laboratory data of 107 MPN patients was retrospectively analyzed. JAK2 mutation were detected with allele-specific polymerase chain reaction （AS-PCR） and sequencing. The significance of the mutation in disease diagnosis and molecular pathogenesis and the correlation between the mutation and thrombosis was analysed. Results JAK2 mutation was detected in 71 （ 66.4% ） and thrombosis in 34 （31.8%） of the 107 MPN patients. Thrombosis occurred in 34.8% （16/46） of polycythemia vera （ PV）,32.6% （ 14/43 ） of essential thrombocythemia （ ET）, and 22.2% （4/18） of primany myelofibrosis （PMF）patients. The difference among the 3 groups was not significant （χ^2 = 0. 96, P 〉 0. 05 ）. The frequency of thrombosis in JAK2 ＋ MPN patients （82.4%,28/34） was higher than that in JAK2- MPN patients （17.6%, 6/34） （χ^2 = 5.71, P 〈 0.05）. The frequency of thrombosis in MPN patients 〉 60 years was higher （41.5 %, 27/65 ） than that in patients 〈 60 years （ 16.7%, 7/42） （χ^2 = 7.28, P 〈 0.01 ）. Conclusion JAK2 V617F mutation occurs in significant percentage of Chinese patients with MPN. Patients with JAK2 mutation and older age are more succeptible to thrombosis. JAK2 mutation screening in patients with unknowt thrombosis is helpful to reveal the underlying latent-MPN.