Kim Jin Won, Na Hee Young, Lee Sejoon, Kim Ji-Won, Suh Koung Jin, Kim Se Hyun, Kim Yu Jung, Lee Keun-Wook, Lee Jong Seok, Kim Jaihwan, Hwang Jin-Hyeok, Hwang Kihwan, Kim Chae-Yong, Kim Yong Beom, Ahn Soomin, Lee Kyu Sang, Kim Hyojin, Lee Hye Seung, Park So Yeon, Choe Gheeyoung, Kim Jee Hyun, Chung Jin-Haeng
Division of Hematology and Medical Oncology, Department of Internal Medicine, Seoul National University Bundang Hospital, Seoul National University College of Medicine, 82, Gumi-ro 173 Beon-gil, Bundang-gu, Seongnam, 463-707, Korea.
Seoul National University College of Medicine, Seoul, Korea.
Sci Rep. 2025 Jan 16;15(1):2171. doi: 10.1038/s41598-024-84909-9.
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.
下一代测序（NGS）癌症分析在韩国的常规临床实践中越来越受到关注。在此，我们评估了在实际临床实践中对晚期实体瘤患者使用NGS检测和基因组匹配疗法的情况。我们分析了2019年6月至2020年6月期间订购的NGS癌症综合检测（SNUBH泛癌版本2）的结果。基于从NGS检测中获得的新信息确定基因组匹配治疗，同时排除传统分子检测的结果。共有990例患者纳入分析（中位年龄：62岁，IV期：82.5%）。使用分子病理学协会遗传变异分类系统，我们发现257例（26.0%）患者携带I级变异，859例（86.8%）患者携带II级变异。在I级病例中，我们检测到的最常发生改变的基因是KRAS（106例患者，10.7%），其次是EGFR（27例患者，2.7%）和BRAF（17例患者，1.7%）。在携带I级变异的患者中，13.7%接受了基于NGS的治疗，如下所示：甲状腺癌（2/7，28.6%）、皮肤癌（2/8，25.0%）、妇科癌症（7/65，10.8%）和肺癌（12/112，10.7%）。在接受基于NGS治疗的32例有可测量病变的患者中，12例（37.5%）实现了部分缓解，11例（34.4%）病情稳定。中位治疗持续时间为6.4个月（95%CI，4.4 - 8.4），中位总生存期未达到。总之，NGS肿瘤分析在实际临床实践中成功实施。这使得能够使用分子分析指导的治疗，从而改善了部分患者的生存结果。
