[Clinical Analysis of Gene Mutation and Vascular Events in Patients with BCR/ABL Negative Myeloproliferative Neoplasms]

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2022 Jun;30(3):813-818. doi: 10.19746/j.cnki.issn.1009-2137.2022.03.024.
[Article in Chinese]

Abstract

Objective: To explore the relationship between clinical features, peripheral blood cell count, coagulation function, gene mutation and hemorrhagic events and thrombotic events in essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis(PMF) patients.

Methods: Clinical data of 78 patients with ET, PV, and PMF who were admitted to the Second Affiliated Hospital of Chongqing Medical University between September 2019 and August 2020 were retrospectively analyzed. Information about sex, age, gene mutation, peripheral blood cell count, coagulation function, and hemorrhagic and thrombotic events was included, and the influence of these data on the occurrence of hemorrhagic and thrombotic events was estimated.

Results: Among the 78 patients with myeloproliferative neoplasms, there were 47 cases of ET, 15 cases of PV, and 16 cases of PMF.A total of 10 patients (12.82%) experienced hemorrhagic events and 27 (34.62%) experienced thrombotic events. Male,patients aged ≥ 60 years, and patients with a JAK2V617F mutation were more likely to experience thrombotic events (P<0.05). Patients with thrombotic events had higher platelet (PLT) counts and fibrinogen (FIB) levels than patients without hemorrhagic-thrombotic events (P<0.05).White blood cell (WBC) count, red blood cell (RBC) count, hemoglobin (HGB) level, prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT) and international normalized ratio (INR) showed no statistical difference between patients with thrombotic events and patients without hemorrhagic-thrombotic events (P>0.05). There was also no significant difference in the above-mentioned indexes between patients with hemorrhagic events and patients without hemorrhagic-thrombotic events (P>0.05). Among JAK2V617F positive myeloproliferative neoplasm patients, male patients were more likely to have thrombotic events (P<0.05), and patients with thrombotic events had higher platelet counts than those without hemorrhagic-thrombotic events (P<0.05). There was no significant difference in age, white blood cell count, red blood cell count, hemoglobin level, PT, APTT, FIB, TT or INR between patients with thrombotic events and patients without hemorrhagic-thrombotic events (P>0.05).

Conclusion: Sex, age, JAK2V617F mutation and platelet count have a certain value for predicting thrombosis in patients with myeloproliferative neoplasms.

题目: BCR/ABL阴性骨髓增殖性肿瘤患者基因突变与血管性事件的临床分析.

目的: 探索原发性血小板增多症、真性红细胞增多症及原发性骨髓纤维化患者中出血性事件及血栓性事件的发生情况,并探索患者临床特征、外周血细胞数、凝血功能、基因突变情况与患者发生出血性事件及血栓性事件的联系.

方法: 回顾性分析2019年9月至2020年8月于重庆医科大学附属第二医院门诊及住院就诊的78例原发性血小板增多症、真性红细胞增多症和原发性骨髓纤维化患者的临床资料,包括性别、年龄、基因突变、外周血细胞数、凝血功能及出血性事件和血栓性事件的发生情况,评价这些指标对出血性事件和血栓事件发生的影响.

结果: 在78例骨髓增殖性肿瘤患者中,原发性血小板增多症、真性红细胞增多症及原发性骨髓纤维化患者分别有47例、15例和16例,其中10例(12.82%)发生出血性事件,27例(34.62%)发生血栓性事件。其中男性、年龄≥60岁、JAK2V617F基因突变的患者更易发生血栓性事件(P<0.05),发生血栓性事件的患者较无出血-血栓性事件的患者有更高的血小板数及纤维蛋白原(FIB)水平(P<0.05),白细胞数、红细胞数、血红蛋白水平、凝血酶原时间(PT)、活化部分凝血活酶时间(APTT)、凝血酶时间(TT)、国际标准化比值(INR)水平在发生血栓性事件的患者和无出血-血栓性事件的患者中均无统计学意义(P>0.05),上述指标在发生出血性事件的患者和无出血-血栓性事件的患者中均无统计学意义(P>0.05);在JAK2V617F基因突变阳性的骨髓增殖性肿瘤患者中,男性患者更容易发生血栓性事件(P<0.05),发生血栓性事件的患者较无出血-血栓性事件的患者有更高的血小板数(P<0.05),患者年龄、白细胞数、红细胞数、血红蛋白水平、PT、APTT、FIB、TT、INR水平在发生血栓性事件的患者和无出血-血栓性事件的患者中无统计学意义(P> 0.05).

结论: 骨髓增殖性肿瘤患者中患者的性别、年龄、JAK2V617F基因突变、血小板数等指标是患者血栓形成的影响因素,对预测患者血栓形成具有一定价值.

Keywords: coagulation function; hemorrhagic events; myeloproliferative neoplasm; peripheral blood cell count; thrombotic events.

MeSH terms

  • Hemoglobins / genetics
  • Hemorrhage
  • Humans
  • Janus Kinase 2 / genetics
  • Male
  • Mutation
  • Myeloproliferative Disorders* / genetics
  • Polycythemia Vera* / genetics
  • Retrospective Studies
  • Thrombocythemia, Essential*
  • Thrombosis*

Substances

  • Hemoglobins
  • Janus Kinase 2