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骨髓增殖性肿瘤JAK2基因突变分析及临床诊断意义

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摘要 目的探讨JAK2基因突变在骨髓增殖性肿瘤(myeloproliferative neoplasms,MPNs)患者中的诊断价值。方法采用扩增受阻突变PCR(amplification refractory mutation PCR,ARMS-PCR)的方法检测原发性血小板增多症(essential thrombocythemia,ET)4例、真性红细胞增多症(polycythemia vera,PV)4例、慢性粒细胞白血病(chronic myeloid leukemia,CML)5例、慢性特发性骨髓纤维化(chronic idiopathic myelofibrosis,CIMF)1例和15例疑似MPNs的骨髓或外周血白细胞基因组JAK2 V617F点突变。结果 29例患者中共发现11例(37.9%)JAK2V617F突变,8例为杂合型突变,3例为纯合型突变;其中ET中2例(50.0%),PV中2例(50.0%),CIMF中1例(100.0%),疑似MPNs患者6例(40.0%),未发现CML患者有突变病例。结论 JAK2 V617F突变为bcr/abl阴性MPNs患者主要的分子遗传学异常标志,可作为临床诊断的指标之一,同时,ARMS-PCR方法能够检测出突变是杂合型还是纯合型。
作者 徐月 阴常欣 何涵 孟凡义 杨默
机构地区 暨南大学医学院血液病研究所 南方医科大学南方医院血液科
出处 《广东医学》 CAS CSCD 北大核心 2011年第17期2284-2286,共3页 Guangdong Medical Journal
关键词 JAK2 骨髓增殖性肿瘤 突变 ARMS—PCR
分类号 R555.1 [医药卫生—血液循环系统疾病]
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参考文献9

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广东医学
2011年 第17期

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