原发性血小板增多症患者CALR、JAK2 V617F、MPL W515K基因突变率及临床特征分析  

Mutation Rate and Clinical Characteristics of CALR,JAK2 V617F and MPL W515K Genes in Patients With Primary Thrombocythemia

作　　者：余晓完 黄东红[1] 郭建欣[2] 黄月琴[2] 谢若腾[1] 蔡俊峰[1] YU Xiao-Wan;HUANG Dong-Hong;GUO Jian-Xin;HUANG Yue-Qin;XIE Ruo-Teng;CAI Jun-Feng(Department of Laboratorial Examination;Department of Hematology, The Second Affiliated Hospital of Fujian Medical University Quanzhou 362000, Fujian Province, China)

机构地区：[1]福建医科大学附属第二医院检验科,福建泉州362000 [2]福建医科大学附属第二医院血液科,福建泉州362000

出　　处：《中国实验血液学杂志》2018年第3期866-870,共5页Journal of Experimental Hematology

基　　金：福建医科大学附属第二医院苗圃课题(2013MP04)

摘　　要：目的:分析原发性血小板增多症患者CALR、MPL W515K与JAK2 V617F基因突变率及临床特征。方法:对本院56例原发性血小板增多症患者,通过基因组DNA-PCR扩增产物直接测序法检测CALR与MPL W515K基因突变,并通过等位基因特异性PCR法检测JAK2 V617F基因突变。结果:56例患者中CALR基因突变14例,发生率为25.00%,其中Ⅰ型6例,Ⅱ型5例,Ⅲ型3例。Ⅰ型与Ⅱ、Ⅲ型CALR基因突变的患者在性别、年龄、血小板计数(Plt)、白细胞计数(WBC)及血红蛋白(Hb)水平的比较均无明显差异(P>0.05);Ⅲ型患者WBC计数较Ⅱ型者显著升高(P<0.05),而Ⅲ型和Ⅱ型组患者的性别、年龄、Hb及Plt的比较均无明显差异(P>0.05)。MPL W515K基因突变3例,发生率为5.36%;JAK2 V617F基因突变21例,发生率为37.50%。MPL W515K与JAK2 V617F阴性患者(18例)中CALR基因突变13例,发生率为72.22%(13/18),并无检出任一2种基因突变共存的病例。CALR突变者外周血Hb、WBC的水平较JAK2 V617F突变者均显著降低(P<0.05)。56例患者中,染色体核型异常3例,发生率为5.36%。染色体核型异常者CALR基因突变率(66.67%)较正常核型者(20.75%)显著升高(P<0.01)。结论:JAK2 V617F基因在原发性血小板增多症患者中的突变率较高,且MPL W515K与JAK2 V617F基因突变阴性者CALR突变率较高,这可能与染色体核型异常存在密切联系;CALR基因突变的原发性血小板增多症患者外周血Hb、WBC的含量较JAK2 V617F突变者均显著降低。Objective： To analyze the mutation rate and clinical characteristics of CALR,MPL W515K and JAK2 V617F genes in patients with primary thrombocythemia（ PT）.Methods： Fifty-six patients with PT were selected as the research objects in our hospital.The CALR and MPL W515K gene mutations were determined by genomic DNA-PCR direct sequencing of the PCR products,and the JAK2 V617F gene mutation was detected by allele specific PCR method.Results： Among the 56 patients with PT there were 14 cases of CALR gene mutation with the incidence rate of 25%,including 6 cases of type Ⅰ,5 cases of type Ⅱ and 3 cases of type Ⅲ.The sex,age,platelet（ Plt） count,white blood cell（ WBC） count and hemoglobin（ Hb） level in the type Ⅰ case of CALR gene mutation all were not significantly different from that in type Ⅱ and Ⅲ（ a ll P〉0.05）; the WBC level in type Ⅲ group significantly increased in comparison of type Ⅱ group（ P〈0.05）,while the sex,age,Hb and Plt levels showed no significant difference between the type Ⅲ and type Ⅱ groups（ P〉0.05）.There were 3 cases of MPL W515K gene mutation with the incidence rate of 5.36%; 21 cases of JAK2 V617F gene mutation with the incidence rate of 37.50%.There were 13 cases of CALR gene mutation in negative patients with MPL W515K and JAK2 V617F（18 cases） with 72.22% incidence rate（13/18）,and there was no cases of 1 or 2 gene mutations coexisted.The levels of Hb and WBC in peripheral blood of patients with CALR mutation were significantly lower than those of JAK2 V617F mutation（ both P〈0.05）.In 56 cases,there were 3 cases of abnormal karyotype,with the incidence rate of 5.36%.The mutation rate of CALR gene in abnormal karyotypes（66.67%） was significantly higher than that of normal karyotypes（20.75%）（P〈0.01）.Conclusion： The incidence of JAK2 V617F gene mutation increases in the patients with primary thrombocythemia; CALR mutation rate is higher in the patients with negative MPL W515K and JAK2 V617F gene mutation,which may

关 键 词：原发性血小板增多症 CALR MPL W515K JAK2 V617F 基因突变 

分 类 号：R558.3[医药卫生—血液循环系统疾病]