TMPRSS2-ERG gene fusion in small cell carcinoma of the prostate

Hum Pathol. 2011 Jan;42(1):11-7. doi: 10.1016/j.humpath.2010.05.026. Epub 2010 Oct 30.

Abstract

Recent studies have shown that most prostate cancers carry the TMPRSS2-ERG gene fusion. Here we evaluated the TMPRSS2-ERG gene fusion in small cell carcinoma of the prostate (n = 12) in comparison with small cell carcinoma of the urinary bladder (n = 12) and lung (n = 11). Fluorescence in situ hybridization demonstrated rearrangement of the ERG gene in 8 cases of prostatic small cell carcinoma (67%), and the rearrangement was associated with deletion of the 5' ERG gene in 7 cases, but rearrangement of the ERG gene was not present in any small cell carcinoma of the urinary bladder or lung. Next we evaluated the TMPRSS2-ERG gene fusion in nude mouse xenografts that were derived from 2 prostatic small cell carcinomas carrying the TMPRSS2-ERG gene fusion. Two transcripts encoded by the TMPRSS2-ERG gene fusion were detected by reverse transcriptase polymerase chain reaction, and DNA sequencing demonstrated that the 2 transcripts were composed of fusions of exon 1 of the TMPRSS2 gene to exon 4 or 5 of the ERG gene. Our study demonstrates the specific presence of TMPRSS2-ERG gene fusion in prostatic small cell carcinoma, which may be helpful in distinguishing small cell carcinoma of prostatic origin from nonprostatic origins. The high prevalence of the TMPRSS2-ERG gene fusion in prostatic small cell carcinoma as well as adenocarcinoma implies that small cell carcinoma may share a common pathogenic pathway with adenocarcinoma in the prostate.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Animals
  • Carcinoma, Small Cell / genetics*
  • Gene Fusion
  • Humans
  • Lung Neoplasms / genetics
  • Male
  • Mice
  • Middle Aged
  • Neoplasm Transplantation
  • Oncogene Proteins, Fusion / genetics*
  • Prostate / pathology
  • Prostatic Neoplasms / genetics*
  • Serine Endopeptidases / genetics
  • Transplantation, Heterologous
  • Urinary Bladder Neoplasms / genetics

Substances

  • Oncogene Proteins, Fusion
  • TMPRSS2-ERG fusion protein, human
  • Serine Endopeptidases
  • TMPRSS2 protein, human