Discovery of non-ETS gene fusions in human prostate cancer using next-generation RNA sequencing

Genome Res. 2011 Jan;21(1):56-67. doi: 10.1101/gr.110684.110. Epub 2010 Oct 29.

Abstract

Half of prostate cancers harbor gene fusions between TMPRSS2 and members of the ETS transcription factor family. To date, little is known about the presence of non-ETS fusion events in prostate cancer. We used next-generation transcriptome sequencing (RNA-seq) in order to explore the whole transcriptome of 25 human prostate cancer samples for the presence of chimeric fusion transcripts. We generated more than 1 billion sequence reads and used a novel computational approach (FusionSeq) in order to identify novel gene fusion candidates with high confidence. In total, we discovered and characterized seven new cancer-specific gene fusions, two involving the ETS genes ETV1 and ERG, and four involving non-ETS genes such as CDKN1A (p21), CD9, and IKBKB (IKK-beta), genes known to exhibit key biological roles in cellular homeostasis or assumed to be critical in tumorigenesis of other tumor entities, as well as the oncogene PIGU and the tumor suppressor gene RSRC2. The novel gene fusions are found to be of low frequency, but, interestingly, the non-ETS fusions were all present in prostate cancer harboring the TMPRSS2-ERG gene fusion. Future work will focus on determining if the ETS rearrangements in prostate cancer are associated or directly predispose to a rearrangement-prone phenotype.

Publication types

  • Evaluation Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antigens, CD / genetics
  • Computational Biology / methods
  • Cyclin-Dependent Kinase Inhibitor p21 / genetics
  • Gene Expression Profiling
  • Gene Fusion*
  • Humans
  • I-kappa B Kinase / genetics
  • In Situ Hybridization, Fluorescence
  • Male
  • Membrane Glycoproteins / genetics
  • Molecular Sequence Data
  • Prostatic Neoplasms / genetics*
  • Prostatic Neoplasms / pathology
  • Proto-Oncogene Proteins c-ets / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, RNA / methods*
  • Serine Endopeptidases / genetics
  • Serine Endopeptidases / metabolism
  • Tetraspanin 29
  • Trans-Activators / metabolism
  • Transcriptional Regulator ERG

Substances

  • Antigens, CD
  • CD9 protein, human
  • CDKN1A protein, human
  • Cyclin-Dependent Kinase Inhibitor p21
  • ERG protein, human
  • Membrane Glycoproteins
  • Proto-Oncogene Proteins c-ets
  • Tetraspanin 29
  • Trans-Activators
  • Transcriptional Regulator ERG
  • I-kappa B Kinase
  • IKBKB protein, human
  • Serine Endopeptidases
  • TMPRSS2 protein, human

Associated data

  • GENBANK/HM245385
  • GENBANK/HM245386
  • GENBANK/HM245387
  • GENBANK/HM245388
  • GENBANK/HM245389
  • GENBANK/HM245390
  • GENBANK/HM245391
  • GENBANK/HM245392
  • GENBANK/HM245393
  • GENBANK/HM245394
  • GENBANK/HM245395
  • GENBANK/HM245396