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

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This study aimed to analyze the genomic characteristics of multiple synchronous lung adenocarcinomas (MSLAS) using whole-exome sequencing (WES) to better distinguish them from lung metastases and explore the genomic information of MSLAS in order to guide their diagnosis and treatment.<br /><br />The researchers collected samples from 10 patients who were diagnosed with MSLAS and underwent surgery at the First Hospital of Jilin University. They performed WES analysis on 22 lung adenocarcinoma lesions and 10 para-carcinoma tissues from these patients.<br /><br />The results showed that the majority of the samples had EGFR mutations, with the highest mutation frequency being in the EGFR gene. The other top mutated genes were CSMD3, TP53, ZNF729, and CCDC168. The median tumor mutational burden (TMB) was 3.39 per megabase.<br /><br />The researchers also used a Bayesian nonnegative matrix factorization algorithm to extract three mutation signatures. Signature 6, which is associated with defective DNA mismatch repair, was found in all the patients with MSLAS. Signature 4 was associated with smoking, while the biological implication of signature 40 is unknown.<br /><br />The heterogeneity of EGFR mutations was observed within the same individual and the same tumor, as well as between different tumors in the same individual. The presence of signature 6 suggests a potential role of defective DNA mismatch repair in MSLAS.<br /><br />The study concludes that next-generation sequencing is a reliable method for identifying MSLAS and provides insights into their occurrence and development. It also offers potential therapeutic targets for these patients.<br /><br />Overall, this study provides valuable genomic information regarding MSLAS, which can help improve the diagnosis, treatment, and understanding of this condition.

Asset Subtitle

Kewei Ma

Meta Tag

Speaker Kewei Ma

Topic Early-Stage NSCLC: Progress in Pathology

Keywords

genomic characteristics

MSLAS

whole-exome sequencing

lung metastases

EGFR mutations

tumor mutational burden

mutation signatures

defective DNA mismatch repair

heterogeneity

therapeutic targets