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Updated: May 20, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Clinical characterization and therapeutic targeting of fusion genes in oncology
Susan Morand1, Lauren Rager2, Daniel Craig2
1Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Abstract:
Gene fusions represent important oncogenic driver mutations resulting in aberrant cellular signaling. In up to 17% of all solid tumors at least one gene fusion can be identified. Precision therapy targeting fusion gene signaling has demonstrated effective clinical benefit. Advancements in clinically relevant next-generation sequencing and bioinformatic techniques have enabled expansion of therapeutic opportunity to subpopulations of patients with fusion gene expression. Clinically, tyrosine inhibitors have shown efficacy in treating fusion gene expressing cancers. Fusion genes are also clonal mutations, meaning it is a personal cancer target involving all cancer cells of that patient, not just a subpopulation of cancer cells within the cancer mass. Thus, both fusion signal disruption and immune signal targeting are effective therapeutic directions. This review discusses fusion gene targeting, therapeutic resistance, and molecular biomarkers.
Insights
Gene fusions are key cancer drivers found in many solid tumors. Targeting these fusion genes with precision therapies, like tyrosine inhibitors, offers effective treatment strategies and personalized cancer care.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Gene fusions are significant oncogenic drivers causing abnormal cellular signaling.
- Approximately 17% of solid tumors harbor at least one gene fusion.
- Precision therapies targeting fusion genes show considerable clinical efficacy.
Purpose of the Study:
- To review the therapeutic strategies for targeting gene fusions in cancer.
- To discuss challenges in therapeutic resistance.
- To highlight molecular biomarkers for fusion gene-driven cancers.
Main Methods:
- Review of current literature on gene fusions and targeted therapies.
- Analysis of next-generation sequencing and bioinformatics advancements.
- Discussion of clinical efficacy of tyrosine inhibitors.
Main Results:
- Gene fusions are clonal mutations, representing a personal target for all cancer cells.
- Targeting fusion gene signaling and immune signals are promising therapeutic avenues.
- Tyrosine inhibitors are effective in treating cancers with fusion gene expression.
Conclusions:
- Precision medicine targeting gene fusions offers significant therapeutic opportunities.
- Understanding fusion genes is crucial for developing effective cancer treatments.
- Further research into therapeutic resistance and biomarkers is warranted.
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