2022 World Conference on Lung Cancer (ePosters)-EP16.03-001. High Frequency of KRAS Mutation, Uncommon EGFR Mutation and TMB-H in Xuanwei Female Patients With Lung Adenocarcinoma

EP16.03-001. High Frequency of KRAS Mutation, Uncommon EGFR Mutation and TMB-H in Xuanwei Female Patients With Lung Adenocarcinoma

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A study conducted in Xuanwei county, China, explored the genetic profile of female patients with lung adenocarcinoma (LUAD) in this high-risk population. The incidence and mortality of LUAD in Xuanwei are particularly high due to exposure to carcinogenic polycyclic aromatic hydrocarbons from indoor coal combustion. The aim of the study was to identify specific genetic alterations that could guide precision treatment for these patients.<br /><br />The study compared the genomic alterations of 64 female patients from Xuanwei to 792 female patients from other regions in China. The Xuanwei cohort had a younger age at diagnosis and more early-stage patients compared to the reference cohort. Additionally, a higher percentage of the Xuanwei cohort had a family history of cancer.<br /><br />The most common mutated genes in the Xuanwei cohort were EGFR, TP53, KRAS, MED12, and LRP1B, in contrast to the reference cohort where EGFR, TP53, TERT, RBM10, and CDKN2A were the most common. Mutations in the homologous recombination repair pathway occurred more frequently in Xuanwei patients. Furthermore, Xuanwei patients had a significantly higher tumor mutational burden (TMB-H) compared to the reference cohort.<br /><br />Specifically, the Xuanwei cohort had a higher frequency of KRAS G12C and G12V mutations, as well as uncommon EGFR mutations (G719X, L861Q, S768I). However, classical EGFR-sensitive mutations (L858R, exon 19del) were less common in Xuanwei patients. Co-mutations of EGFR G719X and S768I were also observed in some cases.<br /><br />Based on these findings, the study suggests that Xuanwei LUAD female patients may benefit from therapies targeting KRAS mutations, uncommon EGFR mutations, defects in the homologous recombination repair pathway, and immunotherapy.<br /><br />Overall, this study provides insights into the specific genetic characteristics of LUAD in Xuanwei female patients, which could inform precision treatment strategies in this high-risk population.

Asset Subtitle

Heng Li

Meta Tag

Speaker Heng Li

Topic Tumour Biology and Biomarkers - Molecular Profiling and Targeted Therapies

Keywords

Xuanwei county

LUAD

genetic alterations

precision treatment

genomic alterations

KRAS mutations

homologous recombination repair pathway

tumor mutational burden

uncommon EGFR mutations

immunotherapy