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Epidermal growth factor receptor mutations in adenocarcinoma lung: Comparison of techniques for mutation detection
Saumya Shukla1, Rahul K Pandey1, Sridhar Mishra1
1Departments of Pathology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
Background:
Targeted therapy using tyrosine kinase inhibitors in cases of non-small-cell lung carcinoma (NSCLC) that harbor epidermal growth factor receptor (EGFR) mutations has drastically improved the overall survival rate. The current study estimated the frequency of EGFR mutations in the Indian population by analyzing the diagnostic parameters of various techniques available for the detection of these mutations.
Materials And Methods:
A case series of 100 histologically diagnosed and immunohistochemically confirmed NSCLC with the adenocarcinoma phenotype comprises the study sample. EGFR mutations were detected using clone-specific immunohistochemistry (IHC), real-time polymerase chain reaction (PCR), and Sanger sequencing.
Results:
EGFR mutations were identified in 48% cases with 72.78% mutations involving exon 19. Clone-specific IHC had a low sensitivity of 46.43%, and the specificity was 79.17%. Sanger sequencing yielded interpretable results in 16% cases only, which were in concordance with the results of real-time PCR.
Conclusion:
EGFR mutations are increasingly being explored for targeted therapy and personalized medicine. Real-time PCR was found to be the best and the most accurate method for the detection of somatic EGFR mutations in adenocarcinoma primarily in the lungs.
Insights
Epidermal growth factor receptor (EGFR) mutations occur in 48% of Indian non-small-cell lung carcinoma (NSCLC) cases. Real-time PCR is the most accurate method for detecting these mutations for targeted therapy.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Targeted therapy with tyrosine kinase inhibitors (TKIs) has improved survival for non-small-cell lung carcinoma (NSCLC) patients with epidermal growth factor receptor (EGFR) mutations.
- Estimating the frequency of EGFR mutations in the Indian population is crucial for guiding treatment strategies.
Purpose of the Study:
- To determine the frequency of EGFR mutations in Indian NSCLC patients.
- To evaluate the diagnostic performance of different methods for EGFR mutation detection.
Main Methods:
- A case series of 100 NSCLC adenocarcinoma patients.
- EGFR mutations were analyzed using clone-specific immunohistochemistry (IHC), real-time polymerase chain reaction (PCR), and Sanger sequencing.
Main Results:
- EGFR mutations were found in 48% of cases, with exon 19 mutations being the most common (72.78%).
- Real-time PCR demonstrated high accuracy, while clone-specific IHC showed low sensitivity (46.43%) and Sanger sequencing yielded limited interpretable results (16%).
Conclusions:
- Real-time PCR is the most accurate and preferred method for detecting somatic EGFR mutations in lung adenocarcinoma.
- Accurate detection of EGFR mutations is vital for personalized medicine and targeted therapy in NSCLC.
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