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Updated: Oct 15, 2025
Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Identification of RET fusions in a Chinese multicancer retrospective analysis by next-generation sequencing
Minke Shi1, Weiran Wang2, Jinku Zhang3
1Department of Thoracic and Cardiovascular Surgery, The Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, China.
Abstract:
Fusion of RET with different partner genes has been detected in papillary thyroid, lung, colorectal, pancreatic, and breast cancer. Approval of selpercatinib for treatment of lung and thyroid cancer with RET gene mutations or fusions calls for studies to explore RET fusion partners and their eligibility for RET-based targeted therapy. In this study, RET fusion patterns in a large group of Chinese cancer patients covering several cancer types were identified using next-generation sequencing. A total of 44 fusion patterns were identified in the study cohort with KIF5B, CCDC6, and ERC1 being the most common RET fusion partners. Notably, 17 novel fusions were first reported in this study. Prevalence of functional RET fusions was 1.05% in lung cancer, 6.03% in thyroid cancer, 0.39% in colorectal cancer, and less than 0.1% in gastric cancer and hepatocellular carcinoma. Analysis showed a preference for fusion partners in different tumor types, with KIF5B being the common type in lung cancer, CCDC6 in thyroid cancer, and NCOA4 in colorectal cancer. Co-occurrence of EGFR mutations and RET fusions with rare partner genes (rather than KIF5B) in lung cancer patients was correlated with epidermal growth factor receptor-tyrosine kinase inhibitor resistance and could predict response to targeted therapies. Findings from this study provide a guide to clinicians in determining tumors with specific fusion patterns as candidates for RET targeted therapies.
Insights
This study identified 44 RET fusion patterns in Chinese cancer patients, finding KIF5B, CCDC6, and ERC1 as common partners. These findings guide the use of RET-targeted therapies for specific cancer types.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- RET fusions are oncogenic drivers in various cancers, including lung and thyroid.
- The targeted therapy selpercatinib highlights the need to understand RET fusion partners for treatment eligibility.
Purpose of the Study:
- To identify RET fusion patterns in a large cohort of Chinese cancer patients.
- To determine the prevalence and specific partners of RET fusions across different cancer types.
- To provide insights for RET-targeted therapy selection.
Main Methods:
- Next-generation sequencing (NGS) was employed to analyze tumor samples.
- A comprehensive analysis of RET gene fusion patterns was conducted.
- Prevalence and common fusion partners were statistically analyzed across cancer types.
Main Results:
- A total of 44 RET fusion patterns were identified, with KIF5B, CCDC6, and ERC1 as the most frequent partners.
- Seventeen novel RET fusions were reported for the first time.
- Prevalence varied by cancer type: 1.05% in lung, 6.03% in thyroid, 0.39% in colorectal cancer.
- Specific fusion partner preferences were observed: KIF5B in lung, CCDC6 in thyroid, NCOA4 in colorectal cancer.
- EGFR mutations co-occurring with rare RET fusions predicted resistance to EGFR-TKIs in lung cancer.
Conclusions:
- This study comprehensively characterizes RET fusion patterns in Chinese cancer patients.
- Findings offer crucial guidance for identifying patients eligible for RET-targeted therapies.
- Understanding specific RET fusion partners is essential for optimizing cancer treatment strategies.
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