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Clinical implementation of next-generation sequencing testing and genomically-matched therapy: a real-world data in a tertiary hospital

Jin Won Kim, Hee Young Na, Sejoon Lee, Ji‐Won Kim, Koung Jin Suh, Se Hyun Kim, Yu Jung Kim, Keun‐Wook Lee, Jong Seok Lee, Jaihwan Kim, Jin‐Hyeok Hwang, Kihwan Hwang, Chae‐Yong Kim, Yong Beom Kim, Soomin Ahn, Kyu Sang Lee, Hyojin Kim, Hye Seung Lee, So Yeon Park, Gheeyoung Choe, Jee Hyun Kim, Jin Haeng Chung, Hye Seung Lee, So Yeon Park, Gheeyoung Choe, Jee Hyun Kim, Jee Hyun Kim, Jin Haeng Chung

2025Scientific Reports17 citationsDOIOpen Access PDF

Abstract

Next-generation sequencing (NGS) cancer profiling has gained traction in routine clinical practice in South Korea. Here, we evaluated the use of NGS testing and genomically-matched therapies for patients with advanced solid tumors in a real-world clinical practice. We analyzed results from NGS cancer panel tests (SNUBH pan-cancer version 2) ordered from June 2019 to June 2020. Genomically-matched treatment was determined based on the novel information obtained from NGS testing, while results from conventional molecular tests were excluded. A total of 990 patients were included in the analysis (median age: 62, Stage IV: 82.5%). Using the Association for Molecular Pathology genetic variant classification system, we found that 257 (26.0%) patients harbored tier I variants, and 859 (86.8%) patients carried tier II variants. Among the tier I cases, the most frequently altered genes we detected were KRAS (106 patients, 10.7%), followed by EGFR (27 patients, 2.7%) and BRAF (17 patients, 1.7%). Of patients with tier I variants, 13.7% received NGS-based therapy as follows: Thyroid cancer (2/7, 28.6%), skin cancer (2/8, 25.0%), gynecologic cancer (7/65, 10.8%), and lung cancer (12/112, 10.7%). Of 32 patients with measurable lesions who received NGS-based therapy, 12 (37.5%) achieved a partial response, and 11 (34.4%) achieved stable disease. The median treatment duration was 6.4 months (95% CI, 4.4-8.4), and the median OS was not reached. In conclusion, NGS tumor profiling was successfully implemented in real-world clinical practice. This enabled the use of molecular profiling-guided therapy which improved survival outcome of selected patients.

Topics & Concepts

Computer scienceMedicineBioinformaticsData scienceComputational biologyMedical physicsBiologyGenetic factors in colorectal cancerCancer Genomics and DiagnosticsGenomics and Rare Diseases