Optimization of fusion detection in non-small cell lung cancer by amplicon-based RNA sequencing.

• DOI: 10.1200/jco.2024.42.16_suppl.e20042
• Publication Date: 2024-06-11T20:39:28Z
• Authors: Qin Feng; Yue Wang; Dongmei Lin; Junling Zhang; Mengli Huang; Ding Zhang; Yating Zheng; Depei Huang; Jing Ma; Lei Xiong
• Keywords: Amplicon; Amplicon sequencing

e20042 Background: In non-small cell lung cancer (NSCLC), more and driver fusions are suitable for targeted therapy. Sequential or parallel DNA RNA sequencing is an option, but it costly requires sufficiently high quality biopsy material. The purpose of this study was to confirm the consistency fusion genes detected by DNA-based NGS RNA-based in same sample, validate performance FFPE samples NGS. Methods: study, we evaluated benefits capture-based amplicon-based identifying gene exon-skipping events 98 NSCLC patients. All cases were stored 1-5 years. addition, investigated limiting initiation. Results: positive samples, detection rate 95% (38/40). Two not NGS, one a five-year sample other due probe covered problem. patients with negative genes, could detect 12.07% fusion-positive involving ALK (n = 1), ROS 3), MET 14 exon skipping RET BRAF 1). Moreover, 3-5 years inevitably degrade RNA, still be used sequencing. Among 66 years, between 96.77%(30/31). able 14.29% (5/35) cases. verification 8 different input amounts found that 87.5% (7/8) meet control accurately mutations as low 1 ng. Conclusions: Molecular profiling based on mixed improves effectiveness fusion-driven NSCLC. method feasible small tissue well greatly reduce complexity cost molecular examination.