经典型BCR-ABL1阴性MPNs患者JAK2、CALR及MPL基因突变检测及临床分析

Detection and Clinical Analysis of JAK2,CALR and MPL Gene Mutations in Patients with Classical BCR-ABL1-negative Myeloproliferative Neoplasms

目的分析经典型BCR-ABL1融合基因阴性骨髓增殖性肿瘤(MPNs)患者JAK2 V617F、CALR、MPL基因突变情况及临床特征。方法回顾性分析连续2年来单中心126例经典型BCR-ABL1融合基因阴性的MPNs患者的临床资料及实验室数据。结果①JAK2 V617F突变率在MPNs患者中最高,占77.78%,PV患者占95.24%。ET患者中JAK2 V617F突变阳性患者的血红蛋白计数显著高于三阴性患者,年龄大于CALR突变阳性患者(P<0.05);PMF患者中JAK2 V617F突变阳性的白细胞计数高于三阴性患者(P<0.05)。②年龄≥60岁患者中血栓事件发生率明显高于年龄<60岁患者(P=0.015)。血栓组中WBC、PLT、纤维蛋白原(Fb)较非血栓组明显升高(P<0.05)。结论经典型BCR-ABL1阴性MPNs患者JAK2 V617F突变率高,JAK2 V617F阳性、高龄(≥60岁)、高WBC计数、高PLT计数及高Fb值的患者更易发生血栓事件。

Objective To investigate JAK2,CALR and MPL gene mutations in patients with classical BCR-ABL1-negative myeloproliferative neoplasms(MPNs)and to analysis their clinical features.Methods This retrospective study analyzed clinical and laboratory data from 126 patients with classical BCR-ABL1-negative MPNs diagnosed from July 2017 to July 2019 for two consecutive years at a single center.Results①JAK2 V617F mutation is the highest frequency in MPNs patients,accounting for 77.78%,and in PV patients,accounting for 95.24%.Among the ET patients,JAK2 V617F mutation-positive patients had significantly higher hemoglobin levels than triple-negative patients,and were older than CALR mutation-positive patients(P<0.05);Among the PMF patients,JAK2 V617F mutation-positive patients had significantly higher white blood cell counts than triple-negative patients(P<0.05).②The incidence of thrombotic events in patients aged≥60 years was significantly higher than that in patients aged<60 years(P=0.015).WBC,PLT and fibrinogen(Fb)in the thrombus group were significantly higher than those in the non-thrombosis group(P<0.05).Conclusion Patients with classic BCR-ABL1-negative MPNs have a high level of JAK2 V617F mutation.JAK2 V617F positive patients,old age(≥60 years),patients with high WBC counts,high PLT counts and high Fb levels are associated with higher risk of thrombotic events.