Clinical application of EGFR co-mutation gene analysis in lung cancer patients based on circulating tumor DNA
10.3760/cma.j.cn114452-20240617-00315
- VernacularTitle:基于循环肿瘤DNA分析肺癌患者EGFR共突变基因的临床应用
- Author:
Dan LI
1
;
Liang SHAN
;
Lifang MA
;
Jiayi WANG
Author Information
1. 上海市胸科医院/上海交通大学医学院附属胸科医院检验科，上海200032
- Keywords:
Carcinoma, non-small-cell lung;
Next-generation sequencing;
Receptor, epidermal growth factor
- From:
Chinese Journal of Laboratory Medicine
2024;47(11):1286-1291
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical significance of gene mutations in epidermal growth factor receptor (EGFR), tumor suppressor gene P53 (TP53), phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA), or SMAD family member 4 (SMAD4) in patients with advanced non-small cell lung cancer (NSCLC) based on circulating tumor DNA (ctDNA) analysis.Methods:A single-center, retrospective study was conducted among patients with NSCLC who visited Shanghai Chest Hospital from June 2022 to January 2024. Peripheral blood was collected from patients prior to targeted therapy, and cell-free DNA (cfDNA) and leukocyte DNA were isolated for next-generation sequencing. ctDNA data was obtained through comparative analysis. Patient gene mutations were analyzed according to the guidelines for the interpretation of somatic variants jointly established by the Association for Molecular Pathology/College of American Pathologists/American Society of Clinical Oncology. Analysis of variance and Kaplan-Meier survival curves were applied to assess the partial response (PR) rate among patients with EGFR gene mutations and those with concurrent mutations in other genes.Results:Among 126 patients, the rate of carrying only EGFR mutations was 46.0% (58/126), with a PR rate of 74.1% (43/58). The rate of double mutations in EGFR and TP53 was 37.3% (47/126), with a PR rate of 53.2% (25/47). The rate of triple mutations in EGFR, TP53, and concurrent mutations in PIK3CA or SMAD4 was 16.7% (21/126), with a PR rate of 28.6% (6/21). The comparison of progression-free survival curves among the three groups showed a statistically significant difference (χ 2=23.81, P<0.01). Conclusions:next-generation sequencing detection technology based on ctDNA can detect concurrent mutations in TP53, PIK3CA, or SMAD4 along with EGFR mutations. Multiple gene mutations are significant factors for poor PR rates and progression-free survival curves in patients.
