原发性血小板增多症患者相关基因的表达及临床意义

The expression and clinical significance of related genes in patients with essential thrombocythemia

目的探讨原发性血小板增多症(ET)患者JAK2、CALR和MPL基因突变率及与临床的相关性。方法回顾性分析2006年1月—2017年12月在新疆医科大学第一附属医院确诊的253例ET患者的临床资料,并进行统计学分析。结果ET患者中JAK2、CALR和MPL基因突变率分别为52.57%,7.51%和4.35%,差异有统计学意义(P<0.05);年龄、血栓形成、血小板、白细胞和血红蛋白在JAK2阳性与阴性组间差异有统计学意义(P<0.05);白细胞计数在CALR阳性与阴性组间差异有统计学意义(P<0.05);脾大、血小板、白细胞和血红蛋白在MPL阳性与阴性组间差异有统计学意义(P<0.05)。结论 ET患者中JAK2基因突变率较高;不同基因突变与不同临床特征相关。

Objective To explore the relationship between different gene expression（JAK2, CALR, MPL gene mutations） and clinical characteristics in patients with essential thrombocythemia.Methods 253 patients with ET from the first affiliated hospital of Xinjiang Medical University from 2006 to 2017. Admit to the information of sexual, age, haemorrhage, thrombus, liver enlargement,spleen enlargement, platelets, white blood cells, hemoglobin and JAK2, CALR, MPL gene mutation. According to the above statistics for statistical analysis. Results The mutation rates of the gene mutation of JAK2, CALR and MPL were 52.57%,7.51% and 4.35% in patients with ET（P〈0.05）. There was a significant difference in age, thrombus, platelets, white blood cells, and hemoglobin between JAK2＋ and JAK2-（P〈0.05）, white blood cell count between CALR＋ and CALR-（P〈0.05）. The same as spleen enlargement platelets, white blood cells and hemoglobin between MPL＋ and MPL-（P〈0.05）. Conclusions In patients with ET, JAK2 gene mutation rate is higher,different genetic mutations associated with different clinical features.