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Updated: Oct 2, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Diagnosis and management of TRK fusion cancer
Shivaani Kummar1, Antoine Italiano, Marcia S Brose
1Oregon Health and Science University.
Abstract:
The tropomyosin receptor kinase (TRK) family of proteins is encoded by neurotrophic tyrosine receptor kinase (NTRK) genes and has a role in the development and normal functioning of the nervous system. NTRK gene fusions have been identified as oncogenic drivers in a wide range of tumors in both adult and pediatric patients. There has recently been a paradigm shift in cancer treatment toward biomarker-based targeted therapies, as an increasing number of actionable targets are being identified across different tumors and/or tumor histologies. These targeted agents offer greater comparative effectiveness and safety vs historical nontargeted standard therapies. The development of drugs that specifically target oncogenic drivers of cancer has led to the emergence of screening technologies to identify the patients most likely to benefit from targeted therapy. This review describes the role of NTRK gene fusions in cancer and outlines the epidemiology of NTRK gene fusions, the therapeutic benefits of targeting TRK fusions with small molecule inhibitors, and recommendations for NTRK gene fusion testing in adult and pediatric patients with cancer, in order to guide treatment decisions.
Insights
Neurotrophic tyrosine receptor kinase (NTRK) gene fusions drive various cancers. Targeting these fusions with specific therapies offers improved outcomes for adult and pediatric patients, guiding treatment decisions.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- The tropomyosin receptor kinase (TRK) family, encoded by neurotrophic tyrosine receptor kinase (NTRK) genes, is crucial for nervous system development and function.
- NTRK gene fusions are oncogenic drivers identified in diverse adult and pediatric tumors.
- A shift towards biomarker-driven targeted cancer therapies is evident, with increasing identification of actionable targets.
Purpose of the Study:
- To review the role of NTRK gene fusions in oncogenesis.
- To outline the epidemiology of NTRK gene fusions across tumor types.
- To discuss the therapeutic benefits of targeting TRK fusions and provide recommendations for NTRK gene fusion testing.
Main Methods:
- Literature review of studies on NTRK gene fusions in cancer.
- Analysis of epidemiological data for NTRK gene fusions.
- Evaluation of therapeutic strategies targeting TRK fusions.
Main Results:
- NTRK gene fusions are actionable oncogenic drivers in a broad spectrum of cancers.
- Targeted therapies against TRK fusions demonstrate significant efficacy and improved safety profiles compared to traditional treatments.
- Screening technologies are emerging to identify patients who will benefit from NTRK-targeted therapies.
Conclusions:
- NTRK gene fusions represent a significant therapeutic target in oncology.
- Targeted inhibition of TRK fusions offers a promising avenue for personalized cancer treatment.
- Recommendations for NTRK gene fusion testing are essential for guiding clinical decision-making in both adult and pediatric oncology.
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