2023 World Conference on Lung Cancer (Posters)-EP06.03. EGFR Exon 20 Insertion Mutations in NSCLC: The Need for Accurate Naming Conventions and Implications for Personalized Therapy

EP06.03. EGFR Exon 20 Insertion Mutations in NSCLC: The Need for Accurate Naming Conventions and Implications for Personalized Therapy - PDF(Abstract)

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This study examines EGFR exon 20 insertion mutations (E20ins) in non-small cell lung cancer (NSCLC) and the need for accurate naming conventions and implications for personalized therapy. The Human Genome Variation Society (HGVS) provides nomenclature for consistent communication and to avoid confusion caused by inconsistent or ambiguous naming conventions. The study aims to assess the distribution of EGFR E20ins in the Asian population and estimate the expected detection coverage of available EGFR mutation detection methods. <br /><br />The researchers retrospectively collected data from 83 patients with EGFR E20ins NSCLC and confirmed the mutations using the cobas EGFR Mutation Test v2, Sanger sequencing, and droplet digital PCR. They reorganized the variants using the HGVS nomenclature standard. The most frequently observed mutations were p.A767_V769dup and p.S768_D770dup. Real-time PCR-based tests were expected to detect 34.6% to 53.5% of all EGFR E20ins cases, while droplet digital PCR covered 53.5% to 69.4% depending on the detection scheme. The Oncomine Dx Target Test had the highest expected detection coverage at 76.4%. <br /><br />Some variants were not included in the detectable mutation lists of the detection methods, but both the cobas and GenesWell methods were able to detect them. The study concludes that accurate naming conventions using HGVS nomenclature are important when describing EGFR E20ins, and each method used for detection should be annotated accordingly.  <br /><br />Overall, this study provides valuable insights into the distribution of EGFR E20ins mutations in the Asian population and the importance of accurate naming conventions and comprehensive detection methods for personalized therapy in NSCLC.

Asset Subtitle

Jieun Park

Meta Tag

Speaker Jieun Park

Topic Pathology & Biomarkers: Genetic Biomarkers

Keywords

EGFR exon 20 insertion mutations

non-small cell lung cancer

EGFR E20ins

naming conventions

personalized therapy

Asian population

mutation detection methods

cobas EGFR Mutation Test v2

Sanger sequencing

droplet digital PCR