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(Slides)

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The study focuses on EGFR exon 20 insertion mutations (E20ins) in non-small cell lung cancer (NSCLC), which is the third most common EGFR mutation. The Human Genome Variation Society (HGVS) provides naming conventions to ensure accurate and consistent communication in describing these mutations. However, some publications have described EGFR E20ins in a confusing manner, emphasizing the need for adherence to HGVS nomenclature. The objective of the study is to assess the distribution of EGFR E20ins in the Asian population and determine the expected detection coverage of available EGFR mutation detection methods based on HGVS recommendations. The researchers collected data from 83 Asian patients with EGFR E20ins NSCLC and confirmed the mutations using different detection methods. They also analyzed data from five additional studies to calculate the detection coverage of each method. The study found that standardized nomenclature and improved detection methods are crucial for the management of patients with EGFR E20ins-positive NSCLC. The majority of corrections needed in the annotations of EGFR E20ins were related to the designation of "insertion" or "deletion-insertion" mutations, which should be appropriately called "duplication" mutations. The study identified specific EGFR E20ins variants that were frequently observed in the Asian population. Additionally, the study highlighted detection assays that were unable to detect certain EGFR E20ins mutations. The findings emphasize the importance of using HGVS nomenclature and considering the mutation initiation position and the 3' rule for accurate classification and analysis of EGFR E20ins variants. Overall, the study emphasizes the need for accurate naming conventions and improved detection methods for personalized therapy in patients with EGFR E20ins-positive 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 mutation

Human Genome Variation Society

HGVS nomenclature

Asian population

EGFR mutation detection methods

duplication mutations

EGFR E20ins variants

personalized therapy