论文部分内容阅读
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。
Objective To investigate the clinical correlation between JAK2V617F mutation and BCR / ABL negative myeloproliferative neoplasms (MPN). Methods A total of 124 patients with BCR / ABL-negative MPN from Department of Hematology, Tongren Hospital, Shanghai Jiaotong University School of Medicine were enrolled in this study. Whole blood DNA was extracted from peripheral blood or bone marrow. Allele-specific PCR was used to detect the existence of JAK2 V617 locus Mutation, combined with clinical data for further analysis. Results 124 cases of BCR / ABL negative MPN patients, 64 males and 60 females, the median age of 58 years (19 to 83 years), JAK2V617F gene mutation was not associated with gender, age-related, JAK2V617F gene mutation was positive 70 cases, the positive rate was 56.45%. The positive rate of polycythemia vera was 62.07% (18/29 cases). The positive rate of primary thrombocythemia (ET) was 53.57 % (45/84 cases). The positive rate of chronic bone marrow fibrosis (IMF) was 63.64% (7/11 cases). Conclusion The mutation of JAK2V617F contributes to the diagnosis of BCR / ABL negative MPN. The mutation of JAK2V617F has certain influence on the hematological characteristics. The mutation of JAK2V617F has no correlation with sex and has correlation with age.