不同基因突变的原发性血小板增多症患者的临床特征

Clinical features of essential thrombocythemia with different gene mutations

目的观察不同原发性血小板增多症(ET)基因突变患者的临床特征及其实验室检查结果的变化。方法选择北京市海淀医院血液内科2015年7月至2020年6月收治的56例初诊ET患者。根据基因突变结果将患者分为JAK2突变组(n=40)、CALR突变组(n=6)和基因阴性组(n=10)。比较三组患者的临床特征(性别、年龄、临床症状、血栓及栓塞事件等)和实验室检查指标[血小板数(PLT)、白细胞数(WBC)、血红蛋白(Hb)、纤维蛋白原(FIB)、血栓弹力图(TEG)、基因突变、乳酸脱氢酶(LDH)、血钾、血糖(GLU)]的差异。结果JAK2突变组患者的平均发病年龄明显高于CALR突变组和基因阴性组,差异均有统计学意义(P<0.05),而三组患者的性别、脾脏是否肿大、TEG是否异常、是否发生血栓及栓塞事件比较差异均无统计学意义(P>0.05);CALR突变组患者WBC数、Hb水平明显低于JAK2突变组、基因阴性组,LDH水平则明显高于JAK2突变组、基因阴性组,而基因阴性组患者的GLU水平明显高于JAK2突变组、CALR突变组,差异均有统计学意义(P<0.05);三组患者的Plt数、FIB水平比较差异均无统计学意义(P>0.05)。结论JAK2基因突变的ET患者发病率高,年龄大,而CALR突变及CALR阴性患者WBC和Hb水平较低,故ET患者多样化的基因突变类型具有不同的临床特征。

Objective To observe the clinical features and changes in laboratory examination results in patients with essential thrombocythemia(ET)with different gene mutations.Methods Fifty-six patients with newly diagnosed ET admitted to the Department of Hematology,Beijing Haidian Hospital from July 2015 to June 2020 were selected.The patients were divided into JAK2 mutation group(n=40),CALR mutation group(n=6),and gene negative group(n=10)according to the gene mutation results.The differences in clinical characteristics(gender,age,clinical symptoms,thrombotic and embolic events),and laboratory examination indexes[platelet count(PLT),white blood cell count(WBC),hemoglobin(Hb),fibrinogen(FIB),thromboelastography(TEG),gene mutation,lactate dehydrogenase(LDH),blood potassium,and blood glucose(GLU)]were compared among the three groups.Results The average age of onset in JAK2 mutation group was significantly higher than that in CALR mutation group and gene negative group,and the differences were statistically significant(P<0.05).However,there were no significant differences in age,whether the spleen was or not,whether TEG was abnormal or not,and whether there were thrombosis and embolic events among the three groups(P>0.05).The number of WBC and Hb level in patients with CALR mutation group were significantly lower than those in JAK2 mutation group and gene negative group,while the level of LDH was significantly higher than those in JAK2 mutation group and gene negative group,while the level of GLU in patients with gene negative group was significantly higher than those in JAK2 mutation group and CALR mutation group(P<0.05).There was no significant difference in Plt number and FIB level among the three groups(P>0.05).Conclusion ET patients with JAK2 mutation have a high incidence and old age,while patients with CALR mutation and CALR negative have low WBC and Hb levels.Therefore,the diversed of gene mutations in ET patients have different clinical characteristics.