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Updated: Jul 5, 2026

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
The discovery and application of gene fusions in prostate cancer
David S Morris1, Scott A Tomlins, James E Montie
1Department of Urology, Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, MI 48109-0602, USA.
Abstract:
Chromosomal rearrangements play a causal role in haematological and mesenchymal malignancies. Importantly, the resulting gene fusions can serve as specific therapeutic targets, as exemplified by the development of imatinib (Gleevec), which specifically inhibits the BCR-ABL gene fusion product that defines chronic myeloid leukaemia. Recently, gene fusions involving the prostate-specific gene transmembrane protease, serine 2 (TMPRSS2) and members of the erythroblastosis virus E26 transforming sequence (ETS) family of transcription factors were identified in most of PSA-screened prostate cancers. In this review, we summarize the identification, characterization and detection of TMPRSS2:ETS gene fusions and their role in prostate cancer development. We also discuss the discovery of additional 5' partners that define distinct classes of ETS gene fusions based on the prostate specificity and androgen responsiveness of the 5' partner. Additionally, we also summarize conflicting reports about associations between gene fusion status and patient outcome. The specificity of ETS gene fusions in prostate cancer suggests that they may have causal roles in prostate cancer and suggest utility in prostate cancer detection, stratification and treatment.
Insights
TMPRSS2:ETS gene fusions are key drivers in most prostate cancers. These specific gene fusions offer potential for improved prostate cancer detection, stratification, and targeted therapies.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Chromosomal rearrangements are crucial in malignancies, leading to gene fusions that can be therapeutic targets.
- The drug imatinib (Gleevec) targets the BCR-ABL fusion in chronic myeloid leukaemia, demonstrating the success of targeted therapies.
- TMPRSS2:ETS gene fusions are prevalent in prostate cancer, involving the TMPRSS2 gene and ETS family transcription factors.
Purpose of the Study:
- To review the identification, characterization, and detection of TMPRSS2:ETS gene fusions in prostate cancer.
- To explore the role of these gene fusions in prostate cancer development.
- To discuss novel 5' partners and their impact on ETS gene fusion classification.
Main Methods:
- Literature review and synthesis of existing research on TMPRSS2:ETS gene fusions.
- Analysis of studies identifying and characterizing these gene fusions.
- Examination of data on the association between gene fusion status and patient outcomes.
Main Results:
- TMPRSS2:ETS gene fusions are identified in the majority of prostate cancers.
- Different 5' partners define distinct classes of ETS gene fusions.
- Conflicting reports exist regarding the correlation between gene fusion status and patient prognosis.
Conclusions:
- TMPRSS2:ETS gene fusions are specifically found in prostate cancer, suggesting a causal role.
- These gene fusions hold promise for prostate cancer detection and stratification.
- Targeted therapeutic strategies may be developed based on these specific gene fusions.
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