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骨髓增殖性肿瘤患者JAK2V617F突变与血栓形成的相关性研究

Correlative study between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm.

作者信息

Li Z C, Fu H J, Wang Z M, Yang S, Xu H Z

机构信息

Department of Hematology, Provincial Hospital, Shandong University, Jinan, China.

Binzhou People's Hospital, Binzhou, China.

出版信息

Genet Mol Res. 2016 Aug 29;15(3):gmr8423. doi: 10.4238/gmr.15038423.

Abstract

In this study, we investigated the correlation between the JAK2V617F mutation and thrombosis in patients with myeloproliferative neoplasm (MPN) using real-time fluorescence quantitative PCR. The incidence of thrombus was monitored and blood and coagulation were routinely assayed in patients with MPN. The JAK2V617F mutation was found in 8/68 individuals in the control group (11.8%); it was expressed in 44/68 patients with MPN (64.7%), suggesting that the rate of this mutation was significantly higher in patients with MPN than that in the control group. Twenty-six MPN patients (38.2%) showed symptoms of thrombosis; MPN patients with thrombosis showed a significantly higher rate of the JAK2V617F mutation, were of a greater age, and had higher blood pressure than MPN patients without thrombosis. In addition, the white blood cells (WBC) (21.98 ± 1.95) and platelets (364.68 ± 97.72) were significantly higher in patients, expressing the mutated gene, with polycythemia vera than in the patients without the mutation. The WBC (32.89 ± 4.25) and hemoglobin (161.92 ± 16.19) were significantly increased in the essential thrombocythemia patients with gene mutation compared with the patients without mutation. MPN patients showed higher blood clotting ability than the control subjects; moreover, MPN patients with the JAK2V617F mutation showed higher blood clotting ability than those without the mutation. The findings of this study indicate that the JAK2V617F mutation is correlated with the incidence of thrombosis, and analysis of this mutation has important clinical significance in the diagnosis and treatment of MPN.

摘要

在本研究中,我们使用实时荧光定量聚合酶链反应研究骨髓增殖性肿瘤(MPN)患者中JAK2V617F突变与血栓形成之间的相关性。监测MPN患者的血栓发生率,并对其血液和凝血功能进行常规检测。在对照组的68名个体中,发现8例存在JAK2V617F突变(11.8%);在68例MPN患者中,44例(64.7%)有该突变表达,这表明MPN患者中该突变率显著高于对照组。26例MPN患者(38.2%)出现血栓症状;有血栓形成的MPN患者JAK2V617F突变率显著更高,年龄更大,血压也高于无血栓形成的MPN患者。此外,真性红细胞增多症患者中表达突变基因者的白细胞(WBC)(21.98±1.95)和血小板(364.68±97.72)显著高于未发生突变的患者。与未发生突变的患者相比,原发性血小板增多症基因突变患者的WBC(32.89±4.25)和血红蛋白(161.92±16.19)显著升高。MPN患者的血液凝固能力高于对照组;此外,有JAK2V617F突变的MPN患者血液凝固能力高于无该突变者。本研究结果表明,JAK2V617F突变与血栓形成发生率相关,对该突变进行分析在MPN的诊断和治疗中具有重要临床意义。

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