JAK2V617F基因突变与BCR/ABL阴性骨髓增殖性肿瘤的临床相关性分析

目的 探讨JAK2V617F基因突变与BCR/ABL阴性骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)的临床相关性分析。 方法 汇总上海交通大学医学院附属同仁医院血液科124例BCR/ABL阴性MPN患者，从外周血或骨髓中提取全血DNA，应用等位基因特异性PCR技术检测样本中是否存在JAK2基因V617位点突变，结合临床资料作进一步分析。 结果 124例BCR/ABL阴性MPN患者，男性64例，女性60例，中位年龄58岁(19～83岁)，JAK2V617F基因突变与性别无相关性，与年龄有相关性，JAK2V617F基因突变阳性者70例，阳性率为56.45%，其中真性红细胞增多症(polycythemia vera，PV)患者阳性率为62.07%(18/29例)，原发性血小板增多症(primary thrombocythemia，ET)患者阳性率为53.57%(45/84例)，慢性骨髓纤维化(chronic bone marrow fibrosis，IMF)患者阳性率为63.64%(7/11例)。 结论 JAK2V617F基因突变有助于BCR/ABL基因阴性的MPN的诊断；JAK2V617F基因突变对血液学特征有一定影响；JAK2V617F基因突变与性别无相关性，与年龄有相关性。 

JAK2V617F mutation and myeloproliferative neoplasms with BCR / ABL negative gene clinical correlation analysis

Objective To investigate the Clinical correlation analysis between JAK2V617 F mutation and myeloproliferative neoplasms(MPN) with BCR/ABL negative gene. Methods Collect 124 patients in my hospital with MPN of BCR/ABL negative,whole blood DNA extracted from peripheral blood or bone marrow,Allele specific PCR technology detect samples whether there is any JAK2V617 F gene locus mutation,combined with clinical data for further analysis. Results Among 124 patients with MPN of BCR/ABL negative,64 cases of male,60 cases of female,the median age of 58(19-83),there has no correlation between JAK2V617 F mutation and gender,and has correlation between JAK2V617 F mutation and age,JAK2V617 F mutation was 70 cases,the positive rate of JAK2V617 F mutation was 56. 45%,the disease of polycythemia vera(PV) patients with positive rate was 62. 07%(18/29),primary thrombocythemia(ET) in patients with positive rate was 53. 57%(45/84 cases),patients with chronic bone marrow fibrosis(IMF) positive rate was 63. 64%(7/11 cases). Conclusion JAK2V617 F mutation can help the diagnosis of MPN with negative BCR/ABL gene. JAK2V617 F mutation can affect hematologic features in some degrees,no correlation between JAK2V617 F mutation and gender,and age have correlation.