bcr-abl阴性骨髓增殖性肿瘤患者基因突变及合并血栓的危险因素分析

目的 探讨bcr-abl阴性骨髓增殖性肿瘤(MPN)JAK2 V617F、JAK2(exon12)、CALR和MPL基因突变与患者临床特征的关系,并分析发生血栓的危险因素.方法 回顾性分析115例bcr-abl阴性MPN患者初诊时的临床特征和实验室指标.34例发生血栓事件的患者为观察组,81例未发生血栓事件的患者为对照组,分析影响患者发生血栓事件的危险因素.结果 在71例原发性血小板增多症(ET)患者中,JAK2 V617F阳性组、CALR阳性组的白细胞计数(WBC)、血红蛋白(Hb)水平与4种突变均阴性组比较,差异有统计学意义(F=5.835,P=0.005;F=3.405,P=0.039);JAK2 V617F阳性组、CALR阳性组的脾大发生率高于4种突变均阴性组(χ2=16.902,P=0.0002;χ2=12.658;P=0.001).观察组中JAK2 V617F阳性、高Hb水平(男性≥160 g/L,女性≥150 g/L)、合并高血压、年龄≥60岁患者所占比例高于对照组(χ2=5.585,P=0.025;χ2=4.909,P=0.043;χ2=8.891,P=0.004;χ2=15.933,P=0.023).结论 检测JAK2 V617F、JAK2(exon12)、CALR和MPL基因突变有助于bcr-abl阴性MPN患者的诊断;JAK2 V617F阳性、高Hb水平、高血压、高龄是发生血栓的危险因素.

Analysis of gene mutation and risk factors of thrombosis in patients with bcr-abl negative myeloproliferative neoplasms

Objective To explore the relationship between gene mutation of JAK2 V617F, JAK2 (exon12), CALR, MPL and clinical features of patients with bcr-abl negative myeloproliferative neoplasms (MPN), and to analyze the risk factors of thrombosis. Methods Clinical features and laboratory tests of 115 patients with bcr-abl negative MPN were analyzed retrospectively. 34 patients with thrombosis were treated as the observation group, and 81 patients without thrombosis were treated as the control group. Results Among 71 primary thrombocythemia cases, the white blood cell count (WBC) and hemoglobin level of JAK2 V617F positive group and CALR positive group was higher than that of 4 gene mutations in negative group (F= 5.835, P= 0.005; F= 3.405, P= 0.039). The incidence of splenomegaly in JAK2 V617F positive group and CALR positive group was higher than that of 4 gene mutations in negative group (χ2=16.902, P=0.0002; χ2= 12.658, P= 0.001). The patients'proportion of JAK2 V617F positive, high hemoglobin level (male ≥160 g/L, female ≥150 g/L), hypertension and over 60 years old in the observation group was higher than that in the control group (χ2= 5.585, P= 0.025; χ2= 4.909, P= 0.043; χ2= 8.891, P= 0.004; χ2=15.933, P=0.023). Conclusion The detection of JAK2 V617F, JAK2 (exon12), CALR and MPL gene mutations is helpful to the diagnosis of bcr-abl negative MPN; JAK2 V617F positive, high hemoglobin level, hypertension, and elderly age are risk factors of thrombosis.