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Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Prevalence of targeted therapy-related genetic variations in NSCLC and their relationship with clinicopathological
Fanghua Li1,2, Peng Ye3, Peiling Cai3
1Department of Pathology, Affiliated Hospital of Southwest Medical University, Luzhou, China.
Background:
Non-small cell lung cancer (NSCLC) is the most common cancer type in China. Targeted therapies have been used to treat NSCLC for two decades, which is only suitable for a subgroup of patients with specific genetic variations. The aim of this study was to investigate the prevalence of genetic variations leading to sensitivity or resistance to targeted therapies in NSCLC, and their relationship with clinicopathological characteristics of the patients.
Methods:
Tumor samples were collected from 404 patients who were diagnosed to have NSCLC and underwent surgery, transthoracic biopsy, bronchoscopy biopsy, or pleural aspiration in Sichuan Provincial People's Hospital from January 2019 to March 2020. Commercial amplification-refractory mutation system kits were used to detect targeted therapy-related genetic variations in those tumor samples. The prevalence of genetic variations and their relationship with patient clinicopathological characteristics were analyzed using statistical software, followed by subgroup analysis.
Results:
In all, 50.7% of the NSCLC patients had sensitive genetic variations to anti-EGFR therapies, and 4.9% of those patients had co-existing resistant genetic variations. Fusions in ALK, ROS1, or RET were found in 7.7% of the patients, including 2 patients with co-existing EGFR exon 19 deletion or L858R. EGFR exon 19 deletion and L858R were more common in female patients and adenocarcinoma. Further subgroup analysis confirmed the observation in female patients in adenocarcinoma subgroup, and in adenocarcinoma in male patients. In addition, smokers were more likely to have squamous cell carcinoma and KRAS mutation and less likely to have EGFR L858R, which were also confirmed after standardization of gender except KRAS mutations.
Conclusion:
Nearly half of the NSCLC patients were eligible for anti-EGFR treatments. In NSCLC, female gender and adenocarcinoma may indicate higher chance of EGFR exon 19 deletion or L858R, and smoking history may indicate squamous cell carcinoma and EGFR L858R.
Insights
Nearly half of non-small cell lung cancer (NSCLC) patients in China possess genetic variations for targeted therapies. Female patients and adenocarcinoma cases show higher EGFR mutations, while smokers are linked to squamous cell carcinoma and KRAS mutations.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Non-small cell lung cancer (NSCLC) is a prevalent malignancy in China.
- Targeted therapies offer treatment for a subset of NSCLC patients with specific genetic variations.
- Understanding the prevalence of these variations is crucial for optimizing treatment strategies.
Purpose of the Study:
- To determine the frequency of genetic variations associated with targeted therapy sensitivity and resistance in NSCLC patients.
- To explore the correlation between these genetic variations and patient clinicopathological characteristics.
Main Methods:
- Analysis of tumor samples from 404 NSCLC patients who underwent surgical or biopsy procedures.
- Utilized amplification-refractory mutation system (ARMS) kits to detect key genetic variations.
- Statistical analysis, including subgroup analysis, was performed to assess prevalence and correlations.
Main Results:
- 50.7% of NSCLC patients exhibited genetic variations sensitive to anti-EGFR therapies; 4.9% had co-existing resistance mutations.
- ALK, ROS1, or RET fusions were identified in 7.7% of patients.
- EGFR exon 19 deletion and L858R mutations were more frequent in females and adenocarcinoma cases; smoking correlated with squamous cell carcinoma and KRAS mutations.
Conclusions:
- Approximately half of NSCLC patients are candidates for anti-EGFR therapies based on genetic profiles.
- Female gender and adenocarcinoma histology are associated with increased likelihood of specific EGFR mutations.
- Smoking history may predict squamous cell carcinoma and certain EGFR mutations.
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