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Detection of epidermal growth factor receptor mutations in formalin fixed paraffin embedded biopsies in Malaysian
Tiffany Ng Shi Yeen1, Rajadurai Pathmanathan, Mohd Sidik Shiran
1Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400, Serdang, Selangor, Malaysia.
Background:
Somatic mutations of the epidermal growth factor receptor (EGFR) are reportedly associated with various responses in non-small cell lung cancer (NSCLC) patients receiving the anti-EGFR agents. Detection of the mutation therefore plays an important role in therapeutic decision making. The aim of this study was to detect EGFR mutations in formalin fixed paraffin embedded (FFPE) samples using both Scorpion ARMS and high resolution melt (HRM) assay, and to compare the sensitivity of these methods.
Results:
All of the mutations were found in adenocarcinoma, except one that was in squamous cell carcinoma. The mutation rate was 45.7% (221/484). Complex mutations were also observed, wherein 8 tumours carried 2 mutations and 1 tumour carried 3 mutations.
Conclusions:
Both methods detected EGFR mutations in FFPE samples. HRM assays gave more EGFR positive results compared to Scorpion ARMS.
Insights
High-resolution melt (HRM) assays detected more epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC) FFPE samples than Scorpion ARMS. This finding aids in therapeutic decision-making for NSCLC patients.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Somatic mutations in the epidermal growth factor receptor (EGFR) influence treatment responses in non-small cell lung cancer (NSCLC) patients undergoing anti-EGFR therapy.
- Accurate detection of EGFR mutations is crucial for guiding therapeutic strategies in NSCLC.
Purpose of the Study:
- To evaluate the efficacy of two methods, Scorpion ARMS and high-resolution melt (HRM) assay, for detecting EGFR mutations.
- To compare the sensitivity of Scorpion ARMS and HRM assays in identifying EGFR mutations within formalin-fixed paraffin-embedded (FFPE) samples.
Main Methods:
- Utilized Scorpion ARMS and high-resolution melt (HRM) assay techniques.
- Analyzed formalin-fixed paraffin-embedded (FFPE) tissue samples from non-small cell lung cancer (NSCLC) patients.
Main Results:
- EGFR mutations were predominantly found in adenocarcinoma, with one instance in squamous cell carcinoma.
- The overall mutation detection rate was 45.7% (221 out of 484 samples).
- Complex mutations were identified, including samples with two or three distinct EGFR mutations.
Conclusions:
- Both Scorpion ARMS and HRM assays successfully detected EGFR mutations in FFPE samples.
- High-resolution melt (HRM) assays demonstrated superior sensitivity, yielding a higher number of positive EGFR mutation results compared to Scorpion ARMS.
