bcr/abl阴性表达的骨髓增殖性肿瘤患者JAK2V617F基因突变的临床研究  

JAK2V617F gene mutation in patients with bcr/abl—negative myeloproliferative neoplasms

作　　者：陈霄峰[1] 陈文芬[1] 林明增[1] 罗文达 

机构地区：[1]浙江省台州恩泽医疗中心(集团)路桥医院血液科,318050

出　　处：《浙江医学》2014年第18期1531-1534,共4页Zhejiang Medical Journal

摘　　要：目的探讨JAK2V617F基因突变在bcr/abl阴性表达的骨髓增殖性肿瘤(MPN)患者中的发生率及临床意义。方法应用实时荧光PCR法检测99例bcr/abl阴性表达的MPN患者的JAK2V617F基因突变。结果 99例患者中发现70例(70.7%)JAK2V617F基因突变,其中真性红细胞增多症(PV)中突变发生率90.6%(29/32),原发性血小板增多症(ET)中突变发生率62.5%(15/24),慢性特发性骨髓纤维化(CIMF)中突变发生率60.9%(14/23),骨髓增殖性肿瘤未分型(MPN-U)中突变发生率为60.0%(12/20)。PV患者的突变率高于ET、CIMF及MPN-U(P<0.05或0.01)。JAK2V617F基因突变型患者的年龄大于野生型患者(P<0.01),血白细胞计数和血红蛋白水平高于野生型患者(P<0.05或0.01)。结论 bcr/abl阴性的MPN患者JAK2V617F基因突变发生率与疾病类型、年龄、外周血细胞计数相关,可以作为bcr/abl阴性MPN患者主要的分子遗传学异常标志,有助于临床诊断。Objective To investigate the frequency and clinical implication of JAK2V617F gene mutation in patients with bcr/abl- negative myeloproliferative neoplasms （MPN）. Methods JAK2V617F mutation was screened by real- time fluorescent PCR in 99 patients with bcr/abl- negative MPN. Results JAK2V617F mutation was detected in 70 of 99 patients with MPN, the frequency rate of mutation was 90.6%（29/32） in patients with polycythemia vera （PV）, 62.5%（15/24） in essential thrombocythemia （ET）, 60.9%（14/23） in chronic idiopathic myelofibrosis（CIMF） and 60.0%（12/20） in myeloproliferative neoplasma- undifferentiated （MPN- U）. The frequency of JAK2V617F mutation in PV patients was significantly higher than that in ET, CIMF, and MPN- U pa-tients （P〈0.05 or 0.01）. There were significant differences in age, leukocyte counts, and hemoglobin levels between JAK2V617F positive and negative patients （P〈0.05 or 0.01）. Conclusion JAK2V617F gene mutation is correlated with the classification of MPN, age and blood cells counts. It may be used as a molecular marker for patients with bcr/abl negative MPN.

关 键 词：骨髓增殖性肿瘤 JAK2V617F基因突变 实时荧光PCR 

分 类 号：R733[医药卫生—肿瘤]