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Updated: May 28, 2025

Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Molecular features and clinical actionability of gene fusions in colorectal cancer
Francesco Giulio Sullo1, Simon Garinet2, Hélène Blons2
1Centre de Recherche des Cordeliers, Sorbonne Université, Inserm, Université Paris Cité, Institut du Cancer Paris CARPEM, Paris, France; Institut du Cancer Paris CARPEM, AP-HP.Centre, Department of Gastroenterology and Digestive Oncology, Hôpital Européen Georges Pompidou, Paris, France.
Abstract:
Colorectal cancer (CRC) is the third leading cause of cancer death and accounts for 10 % of cancer diagnoses worldwide. Despite the advancements achieved over the latest decades, CRC treatments are still based on conventional chemotherapy whose efficacy is limited by acquired resistance and unfavorable toxicity profile, making the search for novel actionable targets a priority. In this context, gene fusions are emerging as promising -albeit very rare - new markers because of their recurrence across different tumor types and their potential actionability. The aim of this review is to investigate the role of gene fusions in CRC by focusing on pathogenesis, screening strategies as well as their clinical implications.
Insights
Gene fusions are rare but promising targets for colorectal cancer (CRC) treatment, offering new therapeutic avenues beyond conventional chemotherapy. This review explores their role in CRC pathogenesis, detection, and clinical application.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Colorectal cancer (CRC) is a major global health concern, ranking as the third leading cause of cancer death.
- Current CRC treatments rely on chemotherapy, which faces challenges due to acquired resistance and significant toxicity.
- Identifying novel, actionable therapeutic targets is crucial for improving CRC patient outcomes.
Purpose of the Study:
- To review the emerging role of gene fusions as potential therapeutic targets in colorectal cancer.
- To explore the involvement of gene fusions in CRC pathogenesis and their clinical implications.
- To discuss current and future strategies for screening and identifying gene fusions in CRC.
Main Methods:
- Comprehensive literature review focusing on gene fusions in colorectal cancer.
- Analysis of studies investigating the molecular mechanisms and clinical significance of gene fusions.
- Evaluation of diagnostic and screening methodologies for gene fusion detection in CRC.
Main Results:
- Gene fusions, though rare, are increasingly recognized as recurrent markers across various tumor types, including CRC.
- These genetic alterations hold potential for targeted therapies due to their specific actionability.
- Advances in screening technologies are improving the detection rates and clinical utility of gene fusions in CRC.
Conclusions:
- Gene fusions represent a promising area for novel therapeutic strategies in colorectal cancer.
- Further research into their pathogenesis and clinical utility is warranted to fully exploit their potential.
- Integrating gene fusion analysis into routine CRC diagnostics may facilitate personalized treatment approaches.
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