Abstract
Objective:Detection of driver genes in non-small cell lung cancer is a prerequisite for targeted therapy.This study aims to compare the detection of driver gene mutations among different types of specimens in patients with,including surgical resection specimens,lung biopsy specimens,cell block specimens,and metastatic lesion specimens,and to analyze the correlation between driver gene mutations and clinicopathological characteristics,thereby providing evidence for clinical targeted therapy.
Methods:A total of 550 NSCLC specimens diagnosed in the Department of Pathology of Pingmei Shenma Medical Group General Hospital from January 2023 to December 2025 were retrospectively collected,including 171 surgically resected specimens,259 lung biopsy specimens,46 cell block specimens,and 74 metastatic lesion specimens.The amplification refractory mutation system polymerase chain reaction(ARMS-PCR)was used to detect mutations in 11 driver genes,including ALK,ROS1,RET,EGFR,KRAS,BRAF,HER2,PIK3CA,NRAS,MET exon 14 skipping mutations,and NTRK1/2/3 fusions.
Results:Among the 550 NSCLC specimens,367 cases(66.7%)harbored driver gene mutations.Univariate analysis showed that the mutation rates differed significantly among different specimen types(P<0.05).Driver gene mutations in NSCLC were significantly associated with gender,histological type,specimen type,lymph node metastasis,and smoking history(all P<0.05),but not with age,specimen site,or maximum tumor diameter(all P>0.05).EGFR mutations were more common in female patients,non-smokers,and those without lymph node metastasis with adenocarcinoma,whereas KRAS mutations were more frequently observed in male smokers,and ALK fusions were more common in female patients aged≤60 years(all P<0.05).Co-mutations were not significantly associated with gender,age,histological type,specimen site,specimen type,maximum tumor diameter,lymph node metastasis,or smoking history(all P>0.05).Multivariate Logistic regression analysis indicated that adenocarcinoma,female sex,and non-smoking status were independent factors associated with the occurrence of driver gene mutations in NSCLC(all P<0.05),whereas specimen type and lymph node metastasis were not independent factors(all P>0.05).
Conclusion:ARMS-PCR is a convenient and efficient method for detecting 11 driver genes and can be used as a preferred detection method for patients with NSCLC.Lung biopsy specimens,cell block specimens,and metastatic lesion specimens can serve as effective complements to surgical resection specimens,and clinicians may select specimen types based on the patient's condition.Testing multiple specimen types can help comprehensively evaluate driver gene mutation status and maximize the likelihood that patients benefit from targeted therapy.关键词
非小细胞肺癌/驱动基因/扩增阻滞突变系统PCR/联合检测/临床病理特征Key words
non-small cell lung cancer/driver genes/amplification refractory mutation system-PCR/combined detection/clinicopathological characteristics分类
医药卫生
