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Updated: May 13, 2025
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Oncogenic gene fusions in cancer: from biology to therapy
Stephen V Liu1, Misako Nagasaka2,3, Judith Atz4
1Division of Hematology and Oncology, Georgetown University, Washington, DC, USA. Stephen.Liu@gunet.georgetown.edu.
Abstract:
Oncogenic gene fusions occur across a broad range of cancers and are a defining feature of some cancer types. Cancers driven by gene fusion products tend to respond well to targeted therapies, where available; thus, detection of potentially targetable oncogenic fusions is necessary to select optimal treatment. Detection methods include non-sequencing methods, such as fluorescence in situ hybridization and immunohistochemistry, and sequencing methods, such as DNA- and RNA-based next-generation sequencing (NGS). While NGS is an efficient way to analyze multiple genes of interest at once, economic and technical factors may preclude its use in routine care globally, despite several guideline recommendations. The aim of this review is to present a summary of oncogenic gene fusions, with a focus on fusions that affect tyrosine kinase signaling, and to highlight the importance of testing for oncogenic fusions. We present an overview of the identification of oncogenic gene fusions and therapies approved for the treatment of cancers harboring gene fusions, and summarize data regarding treating fusion-positive cancers with no current targeted therapies and clinical studies of fusion-positive cancers. Although treatment options may be limited for patients with rare alterations, healthcare professionals should identify patients most likely to benefit from oncogenic gene fusion testing and initiate the appropriate targeted therapy to achieve optimal treatment outcomes.
Insights
Identifying oncogenic gene fusions is crucial for selecting targeted therapies in cancer. This review summarizes fusion types, detection methods, and treatment strategies for better patient outcomes.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Oncogenic gene fusions are key drivers in various cancers.
- Targeted therapies are effective for fusion-driven cancers, necessitating accurate detection.
- Current detection methods include molecular assays like next-generation sequencing (NGS).
Purpose of the Study:
- To review oncogenic gene fusions, particularly those impacting tyrosine kinase signaling.
- To emphasize the importance of testing for oncogenic fusions for optimal treatment selection.
- To provide an overview of fusion identification, approved therapies, and ongoing research.
Main Methods:
- Literature review of oncogenic gene fusions and their therapeutic implications.
- Summary of diagnostic techniques, including fluorescence in situ hybridization, immunohistochemistry, and NGS.
- Analysis of treatment data for fusion-positive cancers with and without targeted therapies.
Main Results:
- Gene fusions are prevalent in many cancer types and often predict response to targeted treatments.
- NGS offers comprehensive analysis but faces economic and technical barriers for global routine use.
- Various targeted therapies exist for specific fusion-positive cancers, with ongoing trials for others.
Conclusions:
- Testing for oncogenic gene fusions is essential for personalized cancer treatment.
- Healthcare professionals should identify patients who may benefit from fusion testing to guide therapy selection.
- Despite challenges, optimizing the use of targeted therapies for fusion-positive cancers improves patient outcomes.
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