2023 World Conference on Lung Cancer (Posters)-EP07.04. Analyze Gene Changes Characteristics of MSLAs in Genomic Study

EP07.04. Analyze Gene Changes Characteristics of MSLAs in Genomic Study - PDF(Abstract)

Pdf Summary

This study aims to analyze the genomic characteristics of multiple primary lung adenocarcinomas (MSLAs) using whole-exome sequencing (WES). MSLAs refer to the occurrence of two or more primary lung adenocarcinomas in the same or different parts of the lungs of the same patient. The researchers collected 22 lung adenocarcinoma lesions and 10 para-carcinoma tissues from 10 patients and performed WES analysis and bioinformatics analysis. <br /><br />The results showed that the majority of the tumor samples had an EGFR mutation, with a mutation frequency of 82%. Other top genes with mutation frequency included CSMD3, TP53, ZNF729, and CCDC168. The median tumor mutational burden (TMB) was 3.39 per megabase. The researchers identified three mutation signatures, with Signature 6, associated with defective DNA mismatch repair, being the most prevalent. Signature 4 was associated with smoking, while the biological implication of Signature 40 was unknown. <br /><br />The study found heterogeneity in EGFR mutations within MSLAS patients, both within the same individual and within different tumors in the same individual. Signature 6, associated with defective DNA mismatch repair, was found in all MSLAS patients. The researchers concluded that next-generation sequencing provides a reliable method for identifying multiple primary lung adenocarcinomas and provides insights into their occurrence, development, and potential therapeutic targets.

Asset Subtitle

Kewei Ma

Meta Tag

Speaker Kewei Ma

Topic Early-Stage NSCLC: Progress in Pathology

Keywords

genomic characteristics

multiple primary lung adenocarcinomas

MSLAs

whole-exome sequencing

EGFR mutation

tumor mutational burden

mutation signatures

defective DNA mismatch repair

smoking

therapeutic targets