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Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
Published on: October 10, 2025
Detecting EGFR Mutations in Patients with Non-small Cell Lung Cancer
Z A Hammoudeh1,2, O Antonova1, R Staneva1,2
1Department of Medical Genetics, Medical University, Sofia, Bulgaria.
Abstract:
Mutations in the receptor of the epidermal growth factor receptor (EGFR) in non-small cell lung cancer (NSCLC) are used as biomarkers for predicting the response of treatment with EGFR tyrosine kinase inhibitors (EGFR TKIs). Non-small cell lung cancer patients usually have activating EGFR mutations that leads to a very good response when they are treated with EGFR TKIs. Our tumor samples were examined for the presence of sensitive mutations in the EGFR gene, resistant mutations or the absence of mutations. To identify the types of the mutation, we used a real-time polymerase chain reaction (RT-PCR) method. Additionally, we evaluated the frequency of EGFR mutations and their association with smoking status, gender and histology. The tumor samples (n = 551) were tested for 29 somatic mutations in the EGFR gene. Sensitive mutations in the EGFR genes were found in 55 NSCLC samples (10.0%). The prevalence of EGFR mutations was much higher for females than for males (27.1 vs. 3.9%, p <0.001). The prevalence of EGFR mutations was greater in subjects who had never smoked than in smokers (15.0 vs. 6.08%, p <0.003). Additionally, the frequency of EGFR mutations was higher in adenocarcinomas than in other histological types (14.9 vs. 5.1%; p <0.001). Our results show that activating mutations on the EGFR gene are more frequent in females than in males, in adenocarcinoma than other histological types and in non smokers than smokers.
Insights
Activating mutations in the epidermal growth factor receptor (EGFR) gene are key biomarkers for non-small cell lung cancer (NSCLC) treatment response. These EGFR mutations are more common in females, never-smokers, and adenocarcinomas.
Area of Science:
- Oncology
- Genetics
- Biomarkers
Background:
- Epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC) are crucial biomarkers for predicting treatment response to EGFR tyrosine kinase inhibitors (TKIs).
- Activating EGFR mutations are often associated with favorable responses to EGFR TKIs in NSCLC patients.
Purpose of the Study:
- To investigate the frequency of sensitive, resistant, and absent EGFR mutations in NSCLC tumor samples.
- To evaluate the association between EGFR mutation status and clinicopathological factors including smoking status, gender, and histology.
Main Methods:
- Real-time polymerase chain reaction (RT-PCR) was employed to identify specific EGFR gene mutations.
- A total of 551 NSCLC tumor samples were analyzed for 29 distinct somatic mutations within the EGFR gene.
Main Results:
- Sensitive EGFR mutations were detected in 10.0% (55/551) of NSCLC samples.
- EGFR mutations were significantly more prevalent in females (27.1%) compared to males (3.9%), in never-smokers (15.0%) versus smokers (6.08%), and in adenocarcinomas (14.9%) compared to other histological types (5.1%).
- Statistical analysis confirmed significant associations between EGFR mutations and female gender, non-smoking status, and adenocarcinoma histology (p <0.001 for all).
Conclusions:
- Activating EGFR mutations are more frequently observed in specific patient subgroups within the NSCLC population.
- These findings highlight the importance of considering gender, smoking history, and histological subtype when assessing EGFR mutation status for personalized NSCLC treatment strategies.
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