TMPRSS2/ERG融合基因检测在前列腺癌诊断中的临床应用研究  

Detection of the TMPRSS2-ETS fusions gene for the diagnosis of prostate cancer

作　　者：王伟[1] 何亮[1] 李伟[1] 胡斌[1] 李信众[1] 韦华玉[1] 蓝志相[1] 梁建波[1] 

机构地区：[1]广西壮族自治区人民医院泌尿外科,南宁430010

出　　处：《临床泌尿外科杂志》2013年第6期446-449,共4页Journal of Clinical Urology

基　　金：广西自然科学基金资助(编号桂科自0991213)

摘　　要：目的:通过比较TMPRSS2/ERG融合基因与前列腺癌各项诊断指标的关系,评估荧光原位杂交技术(FISH)诊断和鉴别诊断前列腺癌的临床应用价值。方法:分别对44例前列腺癌及12例BPH石蜡切片行FISH检测TMPRSS2和ETS(ERG、ETV1及ETV4)基因融合现象,比较两种疾病发生基因融合的情况,并分析前列腺癌标本中TMPRSS2/ETS基因融合改变和前列腺癌各项诊断指标的关系。结果:在44例前列腺癌标本中,26例(59.1%)检测到MPRSS2/ERG融合基因,4例(9.1%)检测到MPRSS2/ETV1融合基因;1例(2.3%)检测到MPRSS2/ETV4融合基因。20例BPH标本均未检测到基因融合现象。FISH诊断前列腺癌的敏感性为70.5%,特异性为100%。TMPRSS2/ETS基因融合状态异常与Gleason评分和ECT呈正相关,相关系数分别为0.383(P=0.001)和0.309(P=0.041);MPRSS2/ETS基因异常发生率与DRE和TRUS的阳性检出率无关联(P>0.05)。结论:FISH技术检测TMPRSS2/ETS(ERG、ETV1、ETV4)融合基因在诊断前列腺癌中具有较高的敏感性和特异性,有助于早期前列腺癌的诊断和鉴别诊断。Objective：To assess the clinical utility of fluorescence in situ hybridization in the diagnosis and dif ferential diagnosis of prostate cancer, through analyzing the relationships between fushions of TMPRSS2/ETS transcription factor genes（ERG, ETV1, ETV4） and various diagnostic indicators of prostate cancer. Methods： We randomly collected 64 specimens including 44 prostate cancers, 20 benign prostatic hyperplasia （BPH） for TM- PRSS2/ETS fusion analyses. F1uorescently labeled probes specific for TMPRSS2/ERG fusion as well as TM PRSS2/ETV1 and TMPRSS2/ETV4 were used to assess samples for gene rearrangements indicative of malignancy under a design of sequential trial. The relationship between TMPRSS2/ETS fusion and each diagnostic indicator of prostate cancer was separately analyzed. Results： Of 44 prostate cancer specimens, TMPRSS2/ERG fusion was de- tected in 26 cases （59.1%）; TMPRSS2/ETV1 fusion Was detected in 4 cases （9.1%） and TMPRSS2/ETV,1 fu sion in 1 case （2.3%）. None of the three types of gene fushion was detected in all 20 cases of BPH. The sensitivi- ty and specificity of FISH for the detection of prostate cancer was 70.5% and 100%. Aberration of ERG gene in prostate cancer was positively associated with Gleason＇s scores （r=0. 383, P=0. 001） and ECT results（r 0. 309 . P= 0.041 ）, while not associated with DRE and TRUS（P〉0.05）. Conclusions：The clinical utility of TMPRSS2/ ETS fusion detection is an effective method to detect prostate cancer with high sensitivity and specificity,contribu- ting to improving the current diagnosis and differential diagnosis.

关 键 词：前列腺癌 原位荧光杂交技术 TMPRSS2 ERG融合基因 诊断 

分 类 号：R737.25[医药卫生—肿瘤]