骨髓增殖性肿瘤128例JAK2V617F基因突变与血栓栓塞关系研究

目的研究骨髓增殖性肿瘤(MPN)患者JAK2V617F突变与发生血栓栓塞的关系。方法回顾性分析2008年2月至2011年7月新疆地区128例不同民族MPN患者临床特征、实验室检查、JAK2V617F基因突变及血栓栓塞事件发生情况等资料。结果 MPN患者中93例(72.6%)存在JAK2V617F突变,66例(51.6%)发生血栓事件,其中突变阳性93例患者中58例有血栓形成,35例突变阴性患者中8例有血栓形成,突变阳性组与阴性组血栓发生率比较差异有统计学意义(χ2=15.893,P<0.05)。76例汉族MPN中58例为突变阳性,42例发生血栓,52例少数民族中35例突变阳性,24例发生血栓,汉族与少数民族患者JAK2基因突变总阳性率及血栓发生率比较均无统计学意义(χ2=1.261,1.026,P>0.05)。结论真性红细胞增多症、原发性血小板增多症及特发性骨髓纤维化等经典MPN患者中均有较高的JAK2V617F基因突变率,并突变阳性者血栓发生率明显高于阴性者;新疆地区汉族与维、哈、回等少数民族MPN患者JAK2V617F基因突变阳性率及血栓形成率之间差异无统计学意义。该突变阳性、年龄≥60岁、WBC≥15×109/L、合并有血管危险因素的患者血栓发生风险可能会高,应尽早予以干预治疗。

JAK2V617F point mutation and thrombosis in patients with myeloproliferative neoplasm

Objective To investigate the correlation between point mutation of JAK2V617F gene and thrombosis in patients with myeloproliferative neoplasm(MPN). Methods We performed a retrospective study on the clinical features,laboratory examinations,point mutations of JAK2V617F gene and thrombosis events in 128 patients with MPN of various minority races in Xinjiang province between February 2008 and July 2011. Results Of 128 patients with MPN,JAK2V617F mutation was detected in 93 cases(72.6%).There were a total of 66(51.6%) thrombosis events,of which 58 cases were reported in 93 patients with positive mutation and 8 cases were found in 35 patients with negative mutation.The incidence rate of thrombosis in those with positive mutation yielded significant difference(χ2=15.893,P<0.05) as compared with patients as having negative mutation.Of 76 Han patients with MPN,42 cases of thrombosis were reported in 52 patients with positive mutation.By contrast,of 52 patients of minority races with MPN,24 cases of thrombosis were reported in 35 patients as having positive mutation.The positive rate of JAK2 gene mutation and incidence of thrombosis did not differ significantly between the Hans and the minorities(χ2=1.261 and 1.026,respectively,P>0.05). Conclusion Higher JAK2V617F mutation rate is associated with patients as having typical MPN(PV,ET and IMF),with a considerably higher incidence rate of thrombosis in those with positive mutation.The positive JAK2V617F mutation rate and incidence of thrombosis might not differ significantly between the Hans and the minorities,for instance,Uygur,Ha and Hui,as having MPN.Positive JAK2 mutation,age ≥ 60 yrs,white blood cell count ≥15×109/L and vascular risk factors might be associated with higher incidence of thrombosis and intervention therapy should therefore be administered in a timely manner.