山西地区非小细胞肺癌驱动基因突变与临床病理特征的关系

Abstract: Objective Investigation into the correlation between hot spot driver gene mutations and clinical pathological features in non-small cell lung cancer (NSCLC). Methods A total of 458 patients with NSCLC diagnosed at Shanxi Bethune Hospital from January 2022 to December 2024 were selected. The mutation system was used to identify the mutation condition of such genes in NSCLC patients, including EGFR, KRAS, NRAS, ALK fusion, ROS1, BRAF, HER2, RET, PIK3CA, MET and statistical analysis of their mutation rates. Results The mutation rates of driver genes in 458 patients with NSCLC are as follows: EGFR 36.24%, KRAS 10.70%, ALK 5.46%, RET 2.18%, ROS1 2.18%, HER2 1.53%, PIK3CA 1.31%, BRAF 1.09%, MET 0.66%, NRAS 0.22%. There are 15 cases (3.28%) exhibiting double mutations in various subtypes of the EGFR gene. Co-mutations were observed between EGFR and KRAS, RET, ROS1, and PIK3CA, as well as between ROS1 and ALK fusion genes. Driver gene mutations can be detected in different specimens and tissue types. However, no significant differences in mutation rates were observed among different specimens (P＞0.05). EGFR mutations are associated with gender and tissue type (P＜0.05), but not with age and specimen type (P＞0.05). KRAS gene mutations are related to age and tissue type (P＜0.05). ALK fusion genes, ROS1 fusion genes, and NRAS genes are associated with age (P＜0.05). The RET gene is related to gender (P＜0.05). BRAF, HER2, MET, and PIK3CA mutations are not associated with clinical pathological features (P＞0.05). Conclusion Various driver gene mutations exist in NSCLC patients, with the mutation rate of the EGFR gene significantly higher than other driver genes. Combined mutations can occur between different genes. There mutation condition of EGFR, KRAS, ALK are related to the features of the NSCLC.