BCR/ABL阴性的骨髓增殖性疾病患者JAK2V617F点突变及凝血功能的研究

目的 探讨BCR/ABL阴性的骨髓增殖性疾病(Myeloproliferative disorders,MPD)患者的JAK2V617F点突变的突变率,分析其与患者的血液学特征、凝血功能的关系.方法 回顾性分析68例BCR/ABL阴性的MPD患者的临床资料,统计实验室各项检测指标及JAK2V617F点突变情况.结果 68例MPD患者中,检出JAK2V617F突变45例,突变率66.18%;其中原发性骨髓纤维化(Primary myelofibrosis,PMF)2例,原发性血小板增多症(Primary thrombocytosis,PT)16例,真性红细胞增多症(Polycythemia vera,PV)27例.与健康对照组比较,不管是否JAK2V617F点突变,MPD患者中PV患者的WBC、TT、Hb及D-D、Fbg均显著升高(均P<0.05);PV患者中JAK2V617F点突变阳性患者的WBC、TT、Hb及D-D、Fbg水平明显高于阴性患者(P<0.05),PLT、APTT及PT差异无统计学意义(P>0.05).结论 MPD患者发生JAK2V617F基因突变率较高,且阳性突变患者凝血功能及血细胞计数存在明显异常.

Point mutation and coagulation function of JAK2V617F inBCR/ABL-negative myeloproliferative disorders

Objective To investigate the mutation rate of JAK2V617F point mutation in patients with BCR/ABL negative myeloproliferative disorders and to examine the relationship between the mutation and the characteristics of blood coagulation and blood coagulation.Method Firstly, The clinical data of 68 patients with BCR/ABL negative myeloproliferative disorders (MPD) were retrospectively analyzed.The detection indexes and JAK2V617F point mutations were then analyzed.Findings In the 68 patients with MPD, 45 cases were detected of JAK2V617F mutation.The mutation rate was 66.18%, which included 2 cases of primary myelofibrosis (PMF), 16 cases of primary thrombocytosis (PT), and 27 cases of polycythemia vera.Compared with the control gorup, regardless of whether the point mutation of JAK2V617F, the level of TT, WBC D-D, Hb and Fbg of the PV groups significantly increased (P<0.05).JAK2V617F mutation negative patients was significantly higher than that of patients with positive WBC, TT, D-D, Hb and Fbg levels in patients with PV (P<0.05).No statistically significant differences were found in PLT, APTT and PT (P>0.05).Conclusion The mutation rate of JAK2V617F gene in patients with MPD is higher and the coagulation function and blood cell count of patients with positive mutations are obviously abnormal.