Chen Yi-Xin, Li Ying, Zhang Ling-Yan, Liu Xin, Shan Ning-Ning
Department of Hematology, Provincial Hospital Affiliated to Shandong University, Jinan 250021, Shandong Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Dec;20(6):1398-404.
This study was aimed to explore the JAK2V617F mutation and p-STAT5 expression in patients with myeloproliferative neoplasm (MPN), and investigate their relations with clinical characteristics so as to provide theoretical basis for clinical practice and target therapy. Forty-five confirmed BCR-ABL-negative MPN patients and 15 healthy adults were enrolled in this study. Real-time fluorescent quantitative PCR and Western blot were respectively used to detect JAK2V617F mutation proportion and p-STAT5 expression level. In addition, their relations with clinical characteristics of MPN were analyzed. The results showed that the positive rate of JAK2V617F mutation in MPN patients was 73.3% (33/45), including 83.3% in polycythemia vera (PV) patients (20/24), 68.8% in essential thrombocythemia (ET) patients (11/16) and 40.0% in idiopathic myelofibrosis (IMF) patients (2/5). Mutation proportions of JAK2V617F in PV, ET and IMF patients were 0.472 ± 0.245, 0.216 ± 0.162, 0.435 ± 0.239 respectively; gray values of p-STAT5 protein in PV, ET and IMF patients were 1.396 ± 0.758, 0.760 ± 0.623, 0.792 ± 0.612 respectively. JAK2V617F mutation proportion and p-STAT5 protein expression level showed a linear correlation (P < 0.05). PV patients with higher JAK2V617F mutation proportion had higher white blood cell count, hemoglobin level and hematocrit, but lower platelet count; ET patients with higher mutation proportion showed older and higher white blood cell count, hemoglobin level and hematocrit, there was no significant difference between platelet count; IMF patients with higher JAK2V617F mutation proportion showed lower white blood cell count, platelet count, hemoglobin level and hematocrit. Patients with JAK2V617F positive mutation were more likely complicated by splenomegaly, bleeding and thrombotic events. It is concluded that the incidence rate of JAK2V617F mutation is high in patients with MPN. Higher mutation proportion always connected with higher expression of p-STAT5, and easily complicates by splenomegaly and thrombotic events.
本研究旨在探讨骨髓增殖性肿瘤(MPN)患者中JAK2V617F突变及p-STAT5表达情况,并研究其与临床特征的关系,为临床实践及靶向治疗提供理论依据。本研究纳入45例确诊的BCR-ABL阴性MPN患者及15例健康成年人。分别采用实时荧光定量PCR及Western blot检测JAK2V617F突变比例及p-STAT5表达水平。此外,分析其与MPN临床特征的关系。结果显示,MPN患者中JAK2V617F突变阳性率为73.3%(33/45),其中真性红细胞增多症(PV)患者突变率为83.3%(20/24),原发性血小板增多症(ET)患者为68.8%(11/16),原发性骨髓纤维化(IMF)患者为40.0%(2/5)。PV、ET及IMF患者JAK2V617F突变比例分别为0.472±0.245、0.216±0.162、0.435±0.239;PV、ET及IMF患者p-STAT5蛋白灰度值分别为1.396±0.758、0.760±0.623、0.792±0.612。JAK2V617F突变比例与p-STAT5蛋白表达水平呈线性相关(P<0.05)。JAK2V617F突变比例较高的PV患者白细胞计数、血红蛋白水平及血细胞比容较高,但血小板计数较低;突变比例较高的ET患者年龄较大,白细胞计数、血红蛋白水平及血细胞比容较高,血小板计数差异无统计学意义;JAK2V617F突变比例较高的IMF患者白细胞计数、血小板计数、血红蛋白水平及血细胞比容较低。JAK2V617F阳性突变患者更易合并脾肿大、出血及血栓形成事件。结论:MPN患者JAK2V617F突变发生率较高。较高的突变比例常与p-STAT5较高表达相关,且易合并脾肿大及血栓形成事件。