Sung Ji-Youn, Jeon Hwang Gyun, Jeong Byong Chang, Seo Seong Il, Jeon Seong Soo, Lee Hyun Moo, Choi Han Yong, Kang So Young, Choi Yoon-La, Kwon Ghee Young
Department of Pathology, Kyung Hee University Hospital, Kyung Hee University School of Medicine, Seoul, Korea.
Department of Urology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
J Clin Pathol. 2016 Jul;69(7):586-92. doi: 10.1136/jclinpath-2015-203314. Epub 2015 Dec 15.
TMPRSS2/E26 transformation-specific (ETS) family gene fusion in prostate carcinoma (PCa) can be detected by several methods including immunohistochemistry (IHC) for ETS-related gene (ERG), the diagnostic utility of which has not been clearly defined.
We explored TMPRSS2-ERG gene rearrangement status in 132 patients with PCa with four detection methods including fluorescence in situ hybridisation for TMPRSS2-ERG fusion, real-time reverse transcription PCR (RT-qPCR) for ERG and TMPRSS-ERG fusion transcript mRNA and IHC for ERG.
Concordant results were found in 126 cases for the four detection methods and the remaining six cases showed discrepancy in one method: two cases in IHC, three cases in RT-qPCR for ERG and one case in RT-qPCR for fusion transcript. In discordant cases, the majority results were determined as final fusion status. Analysis of discrepancy cases for ERG IHC showed that weak immunoreactivity for ERG should be regarded as equivocal and that even strong immunoreactivity can be false positive. The overall incidence of TMPRSS-ERG gene fusion was 24%.
ERG IHC is a useful surrogate test for the detection of TMPRSS2-ERG gene fusion, but it needs to be interpreted with caution and definite judgement should not be based on IHC alone. A relatively low incidence of TMPRSS2-ERG gene fusion was demonstrated in this Korean cohort.
前列腺癌(PCa)中TMPRSS2/ E26转化特异性(ETS)家族基因融合可通过多种方法检测,包括检测ETS相关基因(ERG)的免疫组织化学(IHC),但其诊断效用尚未明确界定。
我们采用四种检测方法,即TMPRSS2-ERG融合荧光原位杂交、ERG和TMPRSS-ERG融合转录本mRNA的实时逆转录PCR(RT-qPCR)以及ERG免疫组织化学,对132例PCa患者的TMPRSS2-ERG基因重排状态进行了研究。
四种检测方法在126例中结果一致,其余6例在一种方法中出现差异:免疫组织化学中有2例,ERG的RT-qPCR中有3例,融合转录本的RT-qPCR中有1例。在不一致的病例中,多数结果被确定为最终融合状态。对ERG免疫组织化学差异病例的分析表明,ERG的弱免疫反应性应视为可疑,即使强免疫反应性也可能为假阳性。TMPRSS-ERG基因融合的总体发生率为24%。
ERG免疫组织化学是检测TMPRSS2-ERG基因融合的有用替代检测方法,但需要谨慎解释,不应仅基于免疫组织化学做出明确判断。在这个韩国队列中,TMPRSS2-ERG基因融合的发生率相对较低。