Relationship between gene mutations and clinicopathological characteristics in patients with non-small cell lung cancer based on high-throughput sequencing
10.3969/j.issn.1673-4130.2025.21.009
- VernacularTitle:基于高通量测序对非小细胞肺癌患者基因突变情况与临床病理特征关系的研究
- Author:
Xueqi YANG
1
;
Zhenwu DU
;
Bohong LIU
;
Qisheng PANG
;
Xuyuan QIN
;
Guizhen ZHANG
Author Information
1. 长春肿瘤医院基因检测中心,吉林长春 130015
- Keywords:
non-small cell lung cancer;
genetic testing;
high-throughput sequencing;
gene muta-tions;
clinicopathological characteristics
- From:
International Journal of Laboratory Medicine
2025;46(21):2613-2620
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the detection rate and distribution characteristics of gene mutations in pa-tients with non-small cell lung cancer,and to analyze their relationship with clinicopathological characteristics.Methods The genetic testing results and clinicopathological data of 213 patients with non-small cell lung cancer who underwent high-throughput genetic testing at the Gene Detection Center,Changchun Cancer Hos-pital from April 2020 to December 2023 were collected.High-throughput sequencing technology was used to detect mutations in 26 genes,and the relationship between the mutation frequency and its distribution and the clinicopathological characteristics of patients was analyzed.Results Among 213 patients with non-small cell lung cancer,192 cases(90.14％)had at least one gene mutation detected.Among them,the genes with rela-tively high mutation frequencies were TP53(60.56％),EGFR(46.48％),KRAS(14.55％),ALK fusion(11.74％),and PIK3CA(8.92％).There were 132 cases(30.28％)of evidence level for Class 1 drugs and 11 cases(2.52％)of evidence level for Class 2 drugs.The incidence of EGFR gene mutations was higher in women,non-smokers and patients with lung adenocarcinoma(P＜0.05).TP53 mutations usually occured in women,smokers and patients with stage Ⅳ.ALK mutations were more common in young patients,while KRAS mutations were more frequently seen in male smokers.Conclusion Analyzing the distribution charac-teristics of gene mutations in non-small cell lung cancer and their relationship with clinicopathological charac-teristics can provide a scientific basis for further optimizing genetic testing for patients with non-small cell lung cancer and offer guidance for clinical treatment.
