3. Xác định đột biến gen EGFR bằng kỹ thuật giải trình tự gen trên mẫu mô ung thư biểu mô phổi không tế bào nhỏ

Abstract

The application of molecular biomedical techniques in identifying mutations in EGFR gene has greatly facilitated targeted therapy for patients with non-small cell lung cancer (NSCLC). Gene sequencing techniques and Realtime PCR are commonly used in Vietnam to develop targeted therapy, and both techniques have their own advantages and disadvantages and can be combined to complement each other. This study was conducted to 1) determine the rate of EGFR mutation by gene sequencing technique from FFPE NSCLC and 2) compare the results of EGFR mutations identified by gene sequencing and Realtime PCR. A total of 78 DNA samples were collected from NSCLC patients with EGFR gene mutations as identified by Real-time PCR. Sequencing technique was applied to identify EGFR gene mutations, and the result was compared to the results of Realtime PCR. Most samples (68/78, 87.18%) had similar mutations as those found by Realtime PCR. All 10 false negative samples had low percentages of cancer cells (≤ 35%). The false-negative rate of the sequenced samples in the study was 12.82%, mainly in the group with a low percentage of cancer cells (≤ 35%). The results suggest that, to find EGFR mutations for tissue samples with a high percentage of cancer cells, sequencing technique should be used, and for samples with low concentrations of cancer cells, Realtime PCR should be used.