原发血小板增多症患者 JAK2 V617F 突变与凝血功能的相关性

The relationship between JAK2 V617F mutation and coagulation function in patients with essential thrombocythemia

目的：探讨原发血小板增多症（ET）患者 JAK2 V617F 突变及其突变负荷与血常规及凝血功能之间的相关性。方法回顾性分析2008年1月至2015年12月收治的90例 ET 患者临床及实验室资料，用等位基因特异性聚合酶链反应行 JAK2 V617F 点突变检测，实时定量特异性聚合酶链反应行JAK2 V617F 检测突变负荷，分析 JAK2 V617F 突变及突变负荷与血常规及凝血功能的相关性。结果90例ET 患者中，50例患者检出 JAK2 V617F 突变，突变率为55.6%。 JAK2 V617F 突变组红细胞计数[（4.67±0.89）×109／L 比（4.04±0.99）×109／L， P＝0.003]、白细胞计数[（11.64±5.20）×109／L 比（9.11±4.11）×109／L， P＝0.014]、血细胞比容[（0.41±0.07）比（0.36±0.07），P＝0.005]均较野生型组高，凝血酶原时间较野生型组长[（13.18±1.63） s 比（12.02±1.24） s，P＝0.000]。 JAK2 V617F 突变负荷为（29.91±18.63）%，JAK2 V617F 突变负荷与血常规之间未见相关性（均 P＞0.05），与纤维蛋白降解产物（FDP）之间存在相关性（r＝0.456，P＝0.001）。结论 ET 患者存在较高的 JAK2 V617F 突变率，临床早期检测JAK2 V617F 突变及突变负荷可能对 ET 患者血管性事件早期预防具有重要的临床价值。

Objective To investigate the frequency of JAK2 V617F mutation and JAK2 V617F mutation allele burden in patients with essential thrombocythemia （ET）, and explore the relationship between mutation and hematological parameters and coagulation function. Methods The clinical and laboratory parameters of 90 ET patients were analyzed. JAK2 V617F mutation was detected by AS-PCR and the mutation allele burden of JAK2 V617F was detected by qPCR. The correlation between mutation frequency and mutation burden of JAK2 V617F and blood laboratory parameters were investigated in ET. Results JAK2 V617F mutation was found in 50 patients （55.6 %）. RBC [（4.67±0.89）×109/L vs （4.04±0.99）×109/L, P =0.003], WBC （11.64±5.20）×109/L vs （9.11±4.11）×109/L, P = 0.014], HCT （0.41±0.07） vs （0.36±0.07）, P =0.005） in the JAK2 V617F mutated group were higher than those in the wild-type group. PT in mutated patients was longer than that in wild-type group [（13.18±1.63） s vs （12.02±1.24） s, P = 0.000]. The JAK2 V617F mutation allele burden was （29.91 ±18.63） %. No significant correlation was found between JAK2 V617F mutation allele burden and hematological parameters such as WBC, RBC and Plt （all P〉0.05）, but the JAK2 V617F mutation allele burden had a significant correlation with FDP （r = 0.456, P = 0.001）. Conclusions JAK2 V617F mutation occurs in significant percentage patients with ET. Detection of JAK2 V617F mutation allele burden at diagnosis may play an important role in the early prevention of vascular events.