JAK2V617F基因突变与MPN患者的血细胞计数、凝血指标及血管性疾病关系的临床分析

目的:探讨JAK2V617F基因突变与骨髓增殖性肿瘤（MPN）患者的血细胞计数、凝血指标及血管性疾病关系的临床分析。方法:对本院收治的54例MPN患者的临床资料与实验室检测结果进行分析，其中原发性骨髓纤维化6例（A组），原发性血小板增多症20例（B组），真性红细胞增多症28例（C组）；无血管性疾病31例，合并血管性疾病23例；另选取30例体检健康者为对照组，分析JAK2V617F基因突变与MPN患者血细胞计数、凝血指标及血管性疾病间的相关性。结果:54例MPN患者中，JAK2V617F基因突变35例 （64.81%），其中原发性骨髓纤维化1例，原发性血小板增多症11例，真性红细胞增多症23例；对照组未发现JAK2V617F基因突变。A组白细胞计数（WBC）、纤维蛋白原（Fib）、D-二聚体（D-D）的水平较对照组均显著升高，血红蛋白（HGB）、红细胞计数（RBC）、血小板计数（PLT）较对照组降低（均P＜0.01），而两组凝血酶原时间（PT）、活化局部凝血酶原时间（APTT）水平的比较，均无明显差异（均P＞0.05）；B组PLT、WBC、D-D、Fib的水平较对照组均显著升高（均P＜0.01），而HGB、RBC、PT、APTT水平的比较，均无明显差异（均P＞0.05）；C组RBC、WBC、HGB、D-D、Fib的水平较对照组均显著升高（均P＜0.05），PT、APTT的水平较对照组均显著降低（均P＜0.05）。23例合并血管性疾病的患者中，伴有JAK2V617F基因突变者PLT、WBC的水平较无JAK2V617F基因突变者显著升高，且既往伴有血管性疾病的发生率更高（均P＜0.05），而RBC、HGB水平的比较，均无明显差异（均P＞0.05）。结论:JAK2V617F基因突变在MPN患者中具有较高的发生率，且此类患者血细胞计数与凝血功能明显异常，发生血管性疾病的风险性较高。因此，临床中对初诊MPN患者应及时监测凝血功能尽早应用药物，有效预防和减少血管性并发症的发生。

Clinical analysis of the correlation between JAK2V617F gene mutation and blood cell count,coagulation index and vascular diseases in patients with MPN

Objective:To investigate the clinical analysis of JAK2V617F gene mutation and blood cell count,blood coagulation index and vascular diseases in patients with myeloproliferative neoplasms (MPN).Methods:The clinical data and laboratory test results of 54 patients with MPN in our hospital were analyzed,including 6 cases of primary myelofibrosis (group A),20 cases of essential thrombocytopenia (group B),28 cases of polycythemia vera (group C).There were 31 cases of without vascular diseases,23 cases with vascular diseases,and 30 cases of healthy subjects were selected as control group.The correlation between JAK2V617F gene mutation and blood cell count,coagulation index and vascular diseases in patients with MPN was analyzed.Results:Among the 54 cases of MPN,35 cases (64.81%) of JAK2V617F gene mutation were found,including 1 case of primary myelofibrosis,11 cases of essential thrombocytopenia,23 cases of polycythemia vera,and no JAK2V617F mutation was found in the control group.The levels of the leucocyte count (WBC),fibrinogen (Fib) and D dimer (D-D) in group A were significantly increased in comparison of those in the control group,hemoglobin (HGB),erythrocyte count (RBC) and platelet count (PLT) were lower than those of the control group (all P＜0.01),while the two groups of prothrombin time (PT),and activated partial thromboplastin time (APTT) showed no significant difference (all P＞0.05).The levels of PLT,WBC,D-D and Fib in group B were significantly increased in comparison of those in the control group (all P＜0.01),but there was no significant difference in HGB,RBC,PT and APTT (all P＞0.05).The levels of RBC,WBC,HGB,D-D and Fib in the group C were significantly increased in comparison of those in the control group (all P＜0.05),and the levels of PT and APTT were significantly decreased in comparison of those in the control group (both P＜0.05),but there was no significant difference in PLT between the two groups (P＞0.05).Among the 23 patients with vascular diseases,the levels of PLT and WBC with JAK2V617F gene mutation were significantly increased in comparison of those without JAK2V617F gene mutation,and the incidence rate of vascular diseases was higher (P＜0.05),but there was no significant difference between RBC and HGB levels (P＞0.05).Conclusion:The mutation of JAK2V617F gene has a high incidence in patients with MPN,and the blood cell count and blood coagulation function of this type of patients are obviously abnormal,and the risk of vascular disease is higher.Therefore,the coagulant function should be detected in time to apply drugs as soon as possible,which can reduce vascular complications in patients with newly diagnosed MPN in clinic.