NGHIÊN CỨU ĐỘT BIẾN GENE Ở BỆNH NHÂN UNG THƯ PHỔI KHÔNG TẾ BÀO NHỎ BẰNG GIẢI TRÌNH TỰ GENE THẾ HỆ MỚI

Abstract

Objectives: To analyse gene mutation characteristics in non-small cell lung cancer (NSCLC) patients treated at Military Hospital 103 using next - generation sequencing (NGS). Methods: A cross-sectional descriptive study was conducted on 155 patients with NSCL who were treated at Military Hospital 103 from January 2023 to January 2025. DNA and RNA were extracted from 155 FFPE tissue samples collected from NSCLC patients. DNA and RNA libraries were constructed with 81 gene panel and sequenced on an Ion Torrent platform. Results: Mutations were detected in 108/155 (69.7%) patients, in which 62 patients (57.4%) had 1 mutation, 37 patients (34.3%) had 2 mutations, and 9 patients (8.3%) had ≥ 3 mutations.  EGFR mutations were found in 51 patients (32.9%), with KRAS was 22.6%, BRAF was 22.6%, and TP53 was 6.5%. Rare mutations such as ALK, ERBB2, KIT, ATM, CDKN2A, NRAS, FGFR1-3, and RET… were detected at low frequencies (0.6 - 2.6%). No mutations were identified in MET, ROS1 or NTRK. Conclusion: Gene mutations are common in patients with NSCL (69.7%), with single-gene mutations being the most frequent (57.4%) and co-mutations accounting for 42.6%. NGS simultaneously detected multiple genomic alterations, including point mutations, deletions, gene amplifications, and fusions, across both common driver genes (EGFR, KRAS) and rare actionable targets (RET, FGFR1-3, ERBB2), providing comprehensive molecular profiling in NSCLC.