PMID- 17632455 OWN - NLM STAT- MEDLINE DCOM- 20071025 LR - 20230210 IS - 0893-3952 (Print) IS - 0893-3952 (Linking) VI - 20 IP - 9 DP - 2007 Sep TI - Gene fusions between TMPRSS2 and ETS family genes in prostate cancer: frequency and transcript variant analysis by RT-PCR and FISH on paraffin-embedded tissues. PG - 921-8 AB - Recurrent gene fusions between TMPRSS2 and ETS family genes have recently been shown to occur at a high frequency in prostate cancer. In this study, we used formalin-fixed paraffin-embedded tissue and evaluated both TMPRSS2-ERG and TMPRSS2-ETV1 fusions by reverse transcription polymerase chain reaction (RT-PCR) and fluorescence in situ hybridization (FISH). The results were correlated to overexpression of the downstream ERG and ETV1 sequences. Of 82 cases examined, TMPRSS2-ETV1 fusion was seen in only one case, by FISH. In comparison, TMPRSS2-ERG fusion was documented in 35 cases (43%) by either RT-PCR or FISH. Deletion, rather than translocation, was found to be the main mechanism for TMPRSS2-ERG gene fusion (81 vs 19%). RT-PCR and FISH results correlated well, with most positive cases resulting in overexpression of downstream ERG sequences. Several TMPRSS2-ERG fusion transcript variants were identified, most of which are predicted to encode truncated ERG proteins. Prostate cancer of Gleason's scores 6 or 7 had more frequent TMPRSS2-ERG fusions than higher-grade tumors, but this difference was not statistically significant (P=0.42). On the other hand, mucin-positive carcinomas more often harbor such gene fusions when compared to mucin-negative tumors (P=0.004). These morphological correlates, and more importantly the potential correlation of such fusions to clinical outcome and treatment responses, should be further explored. FAU - Tu, Jiangling J AU - Tu JJ AD - Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY 10021, USA. FAU - Rohan, Stephen AU - Rohan S FAU - Kao, Jean AU - Kao J FAU - Kitabayashi, Naoki AU - Kitabayashi N FAU - Mathew, Susan AU - Mathew S FAU - Chen, Yao-Tseng AU - Chen YT LA - eng PT - Comparative Study PT - Journal Article DEP - 20070713 PL - United States TA - Mod Pathol JT - Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc JID - 8806605 RN - 0 (DNA-Binding Proteins) RN - 0 (ERG protein, human) RN - 0 (ETV1 protein, human) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (Trans-Activators) RN - 0 (Transcription Factors) RN - 0 (Transcriptional Regulator ERG) RN - 63231-63-0 (RNA) RN - EC 3.4.21.- (Serine Endopeptidases) RN - EC 3.4.21.- (TMPRSS2 protein, human) SB - IM MH - DNA-Binding Proteins/*genetics MH - Gene Deletion MH - Gene Expression Regulation, Neoplastic MH - *Gene Fusion MH - Humans MH - *In Situ Hybridization, Fluorescence MH - Male MH - Neoplasm Staging MH - Oncogene Proteins, Fusion/*genetics MH - Paraffin Embedding MH - Prostatic Neoplasms/*genetics/pathology MH - RNA/analysis MH - *Reverse Transcriptase Polymerase Chain Reaction MH - Serine Endopeptidases/*genetics MH - Trans-Activators/*genetics MH - Transcription Factors/*genetics MH - Transcriptional Regulator ERG MH - Translocation, Genetic EDAT- 2007/07/17 09:00 MHDA- 2007/10/27 09:00 CRDT- 2007/07/17 09:00 PHST- 2007/07/17 09:00 [pubmed] PHST- 2007/10/27 09:00 [medline] PHST- 2007/07/17 09:00 [entrez] AID - S0893-3952(22)03265-3 [pii] AID - 10.1038/modpathol.3800903 [doi] PST - ppublish SO - Mod Pathol. 2007 Sep;20(9):921-8. doi: 10.1038/modpathol.3800903. Epub 2007 Jul 13.