Sử dụng kỹ thuật giải trình tự xác định đột biến gen EGFR ở mẫu mô ung thư phổi không tế bào

The mutations of epidermal growth factor receptor (EGFR) gene were demonstrated to have close relationship to the responses of targeted therapy for non-small-cell lung cancer (NSCLC). This study is carried out with purpose of applying the sequencing technique to detect the mutations of exon 18, 19, 20 and 21 of gene EGFR from NSCLC tissues. 35 paraffinembedded NSCLC tissues were selected for this study; DNA were extracted from lung cancer cells; PCR and sequencing techniques were applied to detect mutation. The results showed that 13/35 (37 percent) of lung cancer tissues had mutation in EGFR gene with 6 different types of mutation, including LREA deletion (exon19) which was the most common mutation with 6/13 cases (46 percent), following L858R (exon 21) with 3/13 (23 percent) and remaining mutation was 4/13 (31 percent), especially 2 novel mutations were detected including: A 2137 deletion in exon 18 and exon 19 deletion.