Objective: To investigate the relationship between mutated genes and clinical features in patients with essential thrombocythemia (ET).
Methods: The clinical data of 69 patients with ET from October 2018 to March 2022 were retrospectively analyzed. According to driver mutation type, patients were divided into JAK2 group, CALR group and triple-negative group. The sex, age, cardiovascular risk factors, thrombosis, splenomegaly, routine blood test and coagulation status of patients in three groups were analyzed.
Results: Among 69 ET patients, 46 cases were associated with JAK2 mutation, 14 cases with CALR mutation, 8 cases with triple-negative mutation, and one with MPL gene mutation. There were no significant differences in age and sex among the three groups (P >0.05). The highest thrombotic rate was 26.09% (12/46) in JAK2 group, then 12.5% (1/8) in triple-negative group, while no thrombotic events occurred in CALR group. The incidence of splenomegaly was the highest in JAK2 group (34.78%), while no splenomegaly occurred in triple-negative group. The white blood cell (WBC) count in JAK2 group was (9.00±4.86)×109/L, which was significantly higher than (6.03±2.32)×109/L in CALR group (P <0.05). The hemoglobin (Hb) and hematocrit (HCT) in JAK2 group were (148.42±18.79) g/L and (0.44±0.06)%, respectively, which were both significantly higher than (131.00±15.17) g/L and (0.39±0.05)% in triple-negative group (P <0.05). The platelet (PLT) in JAK2 group was (584.17±175.77)×109/L, which was significantly lower than (703.07±225.60)×109/L in CALR group (P <0.05). The fibrinogen (Fg) in JAK2 and triple-negative group were (2.64±0.69) g/L and (3.05±0.77) g/L, respectively, which were both significantly higher than (2.24±0.47) g/L in CALR group (P <0.05, P <0.01). The activated partial thromboplastin time (APTT) in triple-negative group was (28.61±1.99) s, which was significantly decreased compared with (31.45±3.35) s in CALR group (P <0.05).
Conclusions: There are differences in blood cell count and coagulation status among ET patients with different driver gene mutations. Among ET patients, JAK2 mutation is most common. Compared with CALR group, the thrombotic rate, WBC and Fg significantly increase in JAK2 group, while PLT decrease. Compared with triple-negative group, the incidence of splenomegaly and HCT significantly increase. Compared with CALR group, Fg significantly increases but APTT decreases in triple-negative group.
题目: 原发性血小板增多症患者中JAK2、CALR及三阴性驱动突变的临床特征比较.
目的: 探讨原发性血小板增多症（ET）患者的突变基因与临床特征的关系。.
方法: 对2018年10月至2022年3月69例ET患者的临床资料进行回顾性分析。将患者按突变的驱动基因类型分为JAK2组、CALR组与三阴性组，对3组患者的性别、年龄、心血管危险因素、血栓、脾肿大、血常规、凝血状态进行分析。.
结果: 69例ET患者中，46例伴随JAK2基因突变，14例伴随CALR基因突变，8例为三阴性，1例伴随MPL基因突变。3组患者的年龄、性别无显著差异（P >0.05）。JAK2组血栓率最高，为26.09%（12/46），三阴性组为12.5%（1/8），CALR组无血栓事件。JAK2组伴随脾肿大发生率最高，为34.78%（16/46），而三阴性组无脾肿大发生。JAK2组的白细胞数为（9.00±4.86）×109/L，显著高于CALR组的（6.03±2.32）×109/L（P <0.05）。JAK2组的血红蛋白含量为（148.43±18.79）g/L，显著高于三阴性组的（131.00±15.17）g/L（P <0.05）。JAK2组的红细胞压积为（0.44±0.06）%，亦显著高于三阴性组的（0.39±0.05）%（P <0.05）。JAK2组血小板数为（584.17±175.77）×109/L，显著低于CALR组的（703.07±225.60）×109/L（P <0.05）。JAK2组和三阴性组纤维蛋白原含量分别为（2.64±0.69）g/L和（3.05±0.77）g/L，均显著高于CALR组的（2.24±0.47）g/L（P <0.05，P <0.01）。三阴性组活化部分凝血活酶时间为（28.61±1.99）s，较CALR组的（31.45±3.35）s显著降低（P <0.05）。.
结论: 不同驱动基因突变ET患者的血细胞计数与凝血状态存在差异。与CALR组相比，JAK2组血栓率、白细胞数和纤维蛋白原含量均显著升高，而血小板数显著降低；与三阴性组相比，JAK2组脾大发生率和红细胞压积显著升高；与CALR组相比，三阴性组的纤维蛋白原含量显著升高、活化部分凝血活酶时间显著降低。.
Keywords: coagulation; driver mutation; essential thrombocythemia; next gene sequencing.