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Oncogenic Gene Fusion Detection Using Anchored Multiplex Polymerase Chain Reaction Followed by Next Generation Sequencing
Published on: July 5, 2019
Epidermal Growth Factor Receptor Aberrations Identified by Next-Generation Sequencing in Patients with Metastatic
Minkyue Shin1,2, Dae-Ho Choi1, Jaeyun Jung1
1Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Purpose:
The epidermal growth factor receptor (EGFR) is a therapeutic target with confirmed clinical efficacy for several cancer types. We aimed to identify EGFR aberrations and their associations with other genomic alterations in patients with metastatic diseases of various cancers.
Materials And Methods:
We used real-world data from the next-generation sequencing (NGS) of 3,286 patients with metastatic cancer at the Samsung Medical Center. We analyzed the distribution of EGFR amplification, mutation, and fusion, as well as their correlations with microsatellite instability (MSI), tumor mutation burden (TMB), and other gene aberrations.
Results:
A total of 3,286 patients were tested using NGS of a panel covering 523 cancer-related genes (TSO500, Illumina) as part of clinical practice between October 2019 and October 2022. Patients with lung cancer and gliomas were not included in the analysis. Of the 3,286 patients, 175 (5.3%) had EGFR amplification, 38 (1.2%) had EGFR mutations, and eight (0.2%) had EGFR fusion. All 175 patients with EGFR amplifications had microsatellite-stable tumors, but 102 had co-amplifications in other cancer-related genes, and 78 had mutations with clinical significance (tier I/II). Among the 38 patients with EGFR mutations, three (8%) showed MSI-high status, and 11 (29%) demonstrated high TMB (≥ 10 mutations/Mb). Among eight patients with EGFR fusion, three exhibited possible functionalities of the EGFR gene.
Conclusion:
EGFR aberrations, mainly amplification, followed by mutation and fusion, were present in 6.4% of patients with metastatic solid tumors.
Insights
Epidermal growth factor receptor (EGFR) aberrations, including amplification, mutation, and fusion, were identified in 6.4% of metastatic solid tumors. These alterations were associated with other genomic changes, impacting potential cancer therapies.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- The epidermal growth factor receptor (EGFR) is a validated therapeutic target in various cancers.
- Understanding the landscape of EGFR aberrations and their co-occurrences with other genomic alterations is crucial for advancing precision oncology.
Purpose of the Study:
- To investigate the prevalence and types of epidermal growth factor receptor (EGFR) aberrations (amplification, mutation, fusion) in patients with metastatic solid tumors.
- To explore the associations between EGFR aberrations and other genomic alterations, including microsatellite instability (MSI) and tumor mutation burden (TMB).
Main Methods:
- Utilized real-world data from next-generation sequencing (NGS) of 3,286 patients with metastatic cancer.
- Analyzed EGFR amplification, mutation, and fusion frequencies and their correlations with MSI, TMB, and other gene aberrations using a 523-gene panel (TSO500).
Main Results:
- EGFR aberrations were detected in 6.4% of patients: 5.3% had EGFR amplification, 1.2% had EGFR mutations, and 0.2% had EGFR fusion.
- EGFR amplifications were exclusively found in microsatellite-stable (MSS) tumors and often co-occurred with other gene amplifications or mutations.
- EGFR mutations were associated with high microsatellite instability (MSI-high) and high tumor mutation burden (TMB) in a subset of patients.
Conclusions:
- EGFR aberrations are present in a notable fraction of metastatic solid tumors, with amplification being the most common.
- The co-occurrence of EGFR aberrations with other genomic alterations highlights the complexity of these tumors and suggests potential for targeted combination therapies.
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