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临床输血与检验

临床输血与检验 ›› 2020, Vol. 22 ›› Issue (5): 537-541.DOI: 10.3969/j.issn.1671-2587.2020.05.023

• 临床检验 • 上一篇    下一篇

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

李桂芳, 刘会兰, 耿良权, 皖湘, 徐修才, 孙自敏, 张世阳   

  1. 230001 中国科技大学附属第一医院(安徽省立医院)
  • 收稿日期:2019-11-22 出版日期:2020-10-20 发布日期:2020-10-16
  • 通讯作者: 刘会兰,女,主任医师,主要从事恶性血液病及脐带血造血干细胞移植方面研究,（E-mail）huilanl@ustc.edu.cn。
  • 作者简介:李桂芳（1986-）,女,安徽桐城人,住院医师,硕士,主要从事老年血液病方向研究,（E-mail）ahliguifang1@163.com。

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

LI Gui-fang, LIU Hui-lan, GENG Liang-quan, et al   

  1. The First Affiliated Hospital of University of Science and Technology of China, Hefei, Anhui 230001
  • Received:2019-11-22 Online:2020-10-20 Published:2020-10-16

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摘要： 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。

关键词: 骨髓增殖性肿瘤, BCR-ABL1融合基因阴性, Janus激酶2, TPO受体基因, 钙网蛋白

Abstract: 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. Results ①JAK2 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.

Key words: Myeloproliferative neoplasms, BCR-ABL1 negative, Janus kinase2, Myeloproliferative leukemia virus oncogene, Calreticulin

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