Related Experiment Video
Updated: Jun 24, 2026
Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
[EGFR mutation analysis in non-small-cell lung cancer : Experience from routine diagnostics]
Background:
Some patients with non-small cell lung cancer (NSCLC) respond well to therapy with tyrosine kinase inhibitors (TKI). Somatic mutation of the epidermal growth factor receptor (EGFR) gene is an important predictive marker for TKI response.
Patients And Methods:
We performed EGFR mutation analysis in 307 NSCLC (exon 18-21). The data were analyzed for associations with clinical-pathological parameters.
Results:
Relevant EGFR mutations were found in 25/307 NSCLC (8.1%; 178 biopsies and 129 cytologies). Most mutations were found in exon 19 (50%) followed by the L858R point mutation in exon 21 (12.5%). EGFR mutations were significantly more common in women than in men (16.8% vs. 2.7%; p<0.001) and in adenocarcinoma than in other carcinoma subtypes (11.4% vs. 3.8%; p=0.017). EGFR mutation was associated with TTF-1 positivity (p<0.041). Almost all (96%) mutated NSCLC were TTF-1 positive.
Conclusion:
In Central Europe, the prevalence of relevant EGFR mutations in NSCLC is <10% of patients with NSCLC. EGFR mutations are more common in women and TTF-1 positive adenocarcinomas. Mutation analysis can be performed both from biopsies and cytologies.
Insights
Epidermal growth factor receptor (EGFR) mutations, important for non-small cell lung cancer (NSCLC) treatment, are found in less than 10% of Central European NSCLC patients. These EGFR mutations are more prevalent in women and adenocarcinomas.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- Non-small cell lung cancer (NSCLC) patients exhibit variable responses to tyrosine kinase inhibitors (TKI).
- Somatic mutations in the epidermal growth factor receptor (EGFR) gene serve as a key predictive biomarker for TKI efficacy.
Purpose of the Study:
- To determine the prevalence of relevant EGFR mutations in a Central European NSCLC cohort.
- To investigate the association between EGFR mutations and clinical-pathological parameters.
Main Methods:
- EGFR mutation analysis was conducted on 307 NSCLC samples (exons 18-21).
- Statistical analysis was employed to correlate mutation status with clinical-pathological features.
Main Results:
- Relevant EGFR mutations were identified in 8.1% (25/307) of NSCLC cases.
- Exon 19 deletions were the most frequent (50%), followed by the L858R mutation in exon 21 (12.5%).
- EGFR mutations were significantly more common in women (16.8%) versus men (2.7%) and in adenocarcinomas (11.4%) versus other subtypes (3.8%).
- A strong association was observed between EGFR mutations and TTF-1 positivity (p<0.041), with 96% of mutated NSCLC cases being TTF-1 positive.
Conclusions:
- The prevalence of actionable EGFR mutations in NSCLC in Central Europe is below 10%.
- EGFR mutations are more frequently observed in female patients and in TTF-1 positive adenocarcinomas.
- EGFR mutation analysis is feasible using both biopsy and cytology specimens.
