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Updated: Jun 23, 2026
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
ETS gene fusions in prostate cancer: from discovery to daily clinical practice
Scott A Tomlins1, Anders Bjartell, Arul M Chinnaiyan
1Michigan Center for Translational Pathology, Department of Pathology, University of Michigan Medical School, Ann Arbor, MI, USA. tomlinss@med.umich.edu
Context:
In 2005, fusions between the androgen-regulated transmembrane protease serine 2 gene, TMPRSS2, and E twenty-six (ETS) transcription factors were discovered in prostate cancer.
Objective:
To review advances in our understanding of ETS gene fusions, focusing on challenges affecting translation to clinical application.
Evidence Acquisition:
The PubMed database was searched for reports on ETS fusions in prostate cancer.
Evidence Synthesis:
Since the discovery of ETS fusions, novel 5' and 3' fusion partners and multiple splice isoforms have been reported. The most common fusion, TMPRSS2:ERG, is present in approximately 50% of prostate-specific antigen (PSA)-screened localized prostate cancers and in 15-35% of population-based cohorts. ETS fusions can be detected noninvasively in the urine of men with prostate cancer, with a specificity rate in PSA-screened cohorts of >90%. Reports from untreated population-based cohorts suggest an association between ETS fusions and cancer-specific death and metastatic spread. In retrospective prostatectomy cohorts, conflicting results have been published regarding associations between ETS fusions and cancer aggressiveness. In addition to serving as a potential biomarker, tissue and functional studies suggest a specific role for ETS fusions in the transition to carcinoma. Finally, recent results suggest that the 5' and 3' ends of ETS fusions as well as downstream targets may be targeted therapeutically.
Conclusions:
Recent studies suggest that the first clinical applications of ETS fusions are likely to be in noninvasive detection of prostate cancer and in aiding with difficult diagnostic cases. Additional studies are needed to clarify the association between gene fusions and cancer aggressiveness, particularly those studies that take into account the multifocal and heterogeneous nature of localized prostate cancer. Multiple promising strategies have been identified to potentially target ETS fusions. Together, these results suggest that ETS fusions will affect multiple aspects of prostate cancer diagnosis and management.
Insights
ETS gene fusions are key in prostate cancer, offering potential for noninvasive detection and targeted therapies. Further research is needed to fully understand their role in cancer aggressiveness and clinical management.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Discovered in 2005, ETS gene fusions involve androgen-regulated TMPRSS2 and ETS transcription factors in prostate cancer.
- The TMPRSS2:ERG fusion is the most prevalent, found in about 50% of PSA-screened localized prostate cancers.
Purpose of the Study:
- To review advancements in understanding ETS gene fusions in prostate cancer.
- To identify challenges in translating these findings into clinical applications.
Main Methods:
- A comprehensive literature search of the PubMed database was conducted.
- Reports on ETS fusions in prostate cancer were systematically reviewed.
Main Results:
- Numerous novel fusion partners and splice isoforms of ETS genes have been identified.
- ETS fusions are detectable noninvasively in urine (>90% specificity) and may correlate with cancer-specific death and metastasis.
- Studies suggest ETS fusions play a role in carcinoma transition and are potential therapeutic targets.
Conclusions:
- ETS fusions show promise for noninvasive prostate cancer detection and improving diagnostics.
- Further research is required to clarify the association between ETS fusions and cancer aggressiveness, considering tumor heterogeneity.
- Targeting ETS fusions presents promising therapeutic strategies, impacting prostate cancer diagnosis and management.
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