Related Experiment Video
Updated: Apr 12, 2026
Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Increase EGFR Mutations Detection Rate in Lung Adenocarcinoma by Real-Time PCR Screening Followed by Direct
Tze-Kiong Er1, Chin-Wen Lin, Ta-Chih Liu
1Departments of *Laboratory Medicine ‡Internal Medicine, Division of Hematology and Oncology ∥Center for Lipid Biosciences, Kaohsiung Medical University Hospital †Department of Medical Laboratory Science and Biotechnology §Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
Background:
Recently, a number of small-molecule tyrosine kinase inhibitors (TKIs) have been developed to target the ATP-binding cleft of the epidermal growth factor receptor (EGFR). The presence of EGFR mutations in non-small cell lung cancer (NSCLC) correlates with the responsiveness to TKIs. Therefore, the identification of EGFR mutations before the administration of TKIs of NSCLC has become important. The aim of the present study was to investigate the occurrence of EGFR mutations in the southern Taiwanese population with NSCLC using a combination of real-time polymerase chain reaction (PCR) kit and direct sequencing.
Methods:
In the present study, DNAs were extracted from 249 cases of formalin-fixed, paraffin-embedded NSCLC samples for clinical EGFR mutational analysis by real-time PCR kit and direct sequencing.
Results:
The results showed that the frequency of EGFR mutations is 63% in the southern Taiwanese population. Most of the EGFR mutations are located at exons 19 and 21. In addition, we indicated that a combination of real-time PCR kit and direct sequencing increases the rate of mutation by 4%. Direct sequencing revealed 9 EGFR mutations including 6 reported EGFR mutations and 3 novel EGFR mutations.
Conclusions:
In the present study, we have demonstrated that a combination of real-time PCR kit and direct sequencing increases the detection rate of EGFR mutations. Therefore, our proposed EGFR mutation detection strategy could be applied in clinical settings. In addition, our results indicated the prevalence of EGFR mutational status in the southern Taiwanese population.
Insights
Identifying epidermal growth factor receptor (EGFR) mutations in Taiwanese non-small cell lung cancer (NSCLC) patients is crucial for targeted therapy. A combined real-time PCR and direct sequencing approach improved mutation detection rates, revealing a 63% prevalence.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Small-molecule tyrosine kinase inhibitors (TKIs) target the epidermal growth factor receptor (EGFR) ATP-binding cleft.
- EGFR mutations in non-small cell lung cancer (NSCLC) predict TKI responsiveness, making pre-treatment mutation identification critical.
- Investigating EGFR mutation prevalence in southern Taiwanese NSCLC patients is essential for personalized medicine.
Purpose of the Study:
- To determine the occurrence of EGFR mutations in southern Taiwanese NSCLC patients.
- To evaluate the efficacy of combining real-time PCR and direct sequencing for EGFR mutation detection.
- To identify novel EGFR mutations in this population.
Main Methods:
- DNA extraction from 249 formalin-fixed, paraffin-embedded NSCLC samples.
- EGFR mutational analysis using a real-time PCR kit.
- Confirmation and discovery of mutations via direct sequencing.
Main Results:
- A 63% frequency of EGFR mutations was observed in the southern Taiwanese population.
- Most mutations were located in exons 19 and 21.
- The combined method increased mutation detection by 4%, identifying 6 known and 3 novel EGFR mutations.
Conclusions:
- Combining real-time PCR and direct sequencing enhances EGFR mutation detection rates in NSCLC.
- This strategy is applicable for clinical settings.
- The study provides insights into EGFR mutational status prevalence in southern Taiwanese NSCLC patients.
