荧光原位杂交技术在前列腺癌诊断中的临床应用

Detection of TMPRSS2-ETS fusions by a multiprobe fluorescence in situ hybridization assay for the diagnosis of prostate cancer

目的建立TMPRSS2/ETS(ERG、ETV1、ETV4)融合基因的荧光原位杂交(FISH)检测和评估方法,并探讨其对于前列腺癌的诊断价值。方法对50例前列腺癌样本、15例正常前列腺组织及20例良性前列腺增生样本应用三组国产FISH探针顺序检测TMPRSS2/ERG、TMPRSS2/ETV1及TMPRSS2/ETV4融合基因,建立FISH技术诊断前列腺癌的阈值,并计算敏感性、特异性、阳性预测值(+PV)和阴性预测值(-PV)。结果三组探针的联合敏感性达到90%,其中TMPRSS2-ERG检测敏感性为78%,总体特异性为100%,阳性预测值为100%,阴性预测值为87.5%。结论应用FISH技术检测TMPRSS2/ETS(ERG、ETV1、ETV4)融合基因诊断前列腺癌具有较高的敏感性和特异性,显示出良好的临床应用前景。

Objective To establish a detection method of TMPRSS2/ETS （ERG,ETV1,ETV4） fusion gene by FISH and to explore its diagnostic value for prostate cancer. Methods Fluorescence labeled probes specific for TMPRSS2-ERG fusion as well as TMPRSS2-ETV1 and TMPRSS2-ETV4 were used to assess 85 specimens including 50 archival prostate cancer tissue blocks, 15 normal prostate specimens, and 20 benign prostatic hyperplasia specimens, for gene rearrangements indicative of malignancy under a design of sequential trial. Results With the diagnostic criteria that determined FISH positivity, TMPRSS2-ETS fusions were detected in 90.0% of the 50 postoperative prostate cancer samples. The overall specificity, positive predictive value and negative predictive value were 100%, 100%, 87.5%. Conclusions The clinical utility of TMPRSS2-ETS fusion detection as an ancillary diagnostic tool for the diagnosis of prostate cancer was promising, given this approach showed＇ significant high sensitivity and specificity in detection.