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Updated: May 8, 2026
Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
Published on: October 10, 2025
Direct sequencing and amplification refractory mutation system for epidermal growth factor receptor mutations in
Huili Chu1, Chen Zhong, Guoliang Xue
1Department of Oncology, General Hospital, Jinan Command of the People's Liberation Army, Jinan, Shandong 250031, P.R. China.
Abstract:
Treatment with epidermal growth factor receptor (EGFR) tyrosine inhibitors (EGFR-TKIs) provides encouraging outcomes for advanced non-small cell lung cancer (NSCLC) patients with EGFR mutations. Pleural effusion is a common complication of NSCLC. We compared direct DNA sequencing and ADx Amplification Refractory Mutation System (ADx-ARMS) to detect EGFR mutations in malignant pleural effusion samples. We obtained 24 samples from pleural effusion fluid of NSCLC patients. Three common types of EGFR mutations were examined by direct sequencing and ADx-ARMS analysis. The sensitivity of the methods was compared and the relationship between EGFR mutations and response rates of the patients determined. In 14/24 patients, we detected EGFR mutations (58.3%) by ADx-ARMS, and in 10 samples (41.7%) by direct sequencing. In 6 samples, EGFR mutations were on exon 19, and in 8 samples, mutations were on exon 21 by ADx-ARMS. By contrast, we found EGFR mutations in 4 samples on exon 19, and in 6 samples on exon 21 by direct sequencing. Neither method showed mutations on exon 20. Among the 24 patients, there was 83.3% concordance for the methods. In 18/24 patients, gefitinib treatment was administered, including 10 patients with mutations who showed improved response compared to 8 of the wild-type patients (P<0.05). In conclusion, EGFR mutation analysis by ADx-ARMS was the most sensitive compared to direct sequencing, and provided more reliable EGFR mutation assessments. ADx-ARMS could be introduced into the clinical practice to identify NSCLC patients likely to benefit from TKI treatment, especially those with malignant pleural effusion.
Insights
ADx-ARMS is more sensitive than direct sequencing for detecting epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC) pleural effusion, improving TKI treatment selection.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genetics
Background:
- Advanced non-small cell lung cancer (NSCLC) often presents with pleural effusion.
- Epidermal growth factor receptor (EGFR) mutations are key targets for tyrosine kinase inhibitor (TKI) therapy in NSCLC.
- Accurate EGFR mutation detection in pleural fluid is crucial for guiding treatment decisions.
Purpose of the Study:
- To compare the sensitivity and concordance of direct DNA sequencing and ADx Amplification Refractory Mutation System (ADx-ARMS) for EGFR mutation detection in malignant pleural effusion samples from NSCLC patients.
- To assess the clinical utility of EGFR mutation status in predicting response to EGFR-TKI therapy.
Main Methods:
- Analysis of 24 malignant pleural effusion samples from NSCLC patients.
- Detection of common EGFR mutations (exons 19 and 21) using both direct DNA sequencing and ADx-ARMS.
- Comparison of mutation detection rates, concordance between methods, and correlation with gefitinib treatment response.
Main Results:
- ADx-ARMS detected EGFR mutations in 58.3% (14/24) of samples, compared to 41.7% (10/24) by direct sequencing.
- ADx-ARMS identified more mutations (6 exon 19, 8 exon 21) than direct sequencing (4 exon 19, 6 exon 21).
- 83.3% concordance was observed between the two methods; patients with detected mutations showed significantly better response to gefitinib (P<0.05).
Conclusions:
- ADx-ARMS demonstrates superior sensitivity and reliability for EGFR mutation detection in NSCLC pleural effusions compared to direct sequencing.
- This method can effectively identify NSCLC patients, particularly those with malignant pleural effusion, who are likely to benefit from EGFR-TKI treatment.
- ADx-ARMS is recommended for clinical integration to optimize targeted therapy selection in NSCLC.
