A single-institution retrospective study of comprehensive genomic profiling tests based on C-CAT findings for advanced solid cancers.

IF 1.9 4区 医学 Q3 ONCOLOGY Japanese journal of clinical oncology Pub Date : 2024-09-19 DOI:10.1093/jjco/hyae128
Susumu Takeuchi, Akinobu Yoshimura, Atsushi Sofuni, Yuri Ueda, Tomohiro Umezu, Masahiko Kuroda, Aoi Sukeda, Jun Matsubayashi, Toshitaka Nagao, Masato Bingo, Natsuko Inagaki, Tatsuo Ohira, Masahiro Seike, Norihiko Ikeda
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Abstract

Background: In recent years, as the availability of precision therapies expands, there is increasing reliance on genomic profiling assays to help identify the most appropriate treatment options for patients with advanced cancers. We retrospectively investigated the results of comprehensive genomic profiling tests from the time insurance coverage began until recently and examined the status of genetic analysis.

Methods: We retrospectively reviewed the analysis results of 300 patients with advanced solid tumors who consented to comprehensive genomic profiling tests from October 2019 to December 2022.

Results: Of the 300 patients who underwent comprehensive genomic profiling tests, analysis results for 274 patients were obtained, and were reviewed by the Clinical Genome Expert Panel. Six specimens (2%) were discontinued due to patient deaths and deteriorations in general condition. The three most frequently occurring actionable genomic alterations observed were TP53 (47.4%), KRAS (28.1%) and CDKN2A (20.4%). The most common druggable variant was CDKN2A, which was noted in 52 (19%) of 274 patients. The next most common were PIK3CA, BRAF, KRAS and PTEN. The cancer types that showed a greater median number of actionable alterations comprised thyroid cancer, pancreatic cancer and colorectal cancer.

Conclusions: In conclusion, comprehensive genomic profiling tests have the potential to be valuable in identifying genomic abnormalities. Even if there is no effective treatment at present, it may lead to a treatment in the future. Comprehensive genomic profiling tests should be considered for any cancer.

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基于 C-CAT 检测结果的晚期实体瘤综合基因组分析测试的单一机构回顾性研究。
背景:近年来,随着精准疗法的普及,人们越来越依赖基因组分析检测来帮助晚期癌症患者确定最合适的治疗方案。我们回顾性地调查了从保险覆盖开始到最近的全面基因组分析测试结果,并研究了基因分析的现状:我们回顾性地查看了2019年10月至2022年12月期间同意接受综合基因组图谱检测的300名晚期实体瘤患者的分析结果:在接受全面基因组图谱检测的300名患者中,有274名患者的分析结果已获得临床基因组专家小组的审核。6份样本(2%)因患者死亡或病情恶化而中止。观察到的三种最常见的可操作基因组改变是 TP53(47.4%)、KRAS(28.1%)和 CDKN2A(20.4%)。最常见的可药用变异是 CDKN2A,274 例患者中有 52 例(19%)出现了这种变异。其次是 PIK3CA、BRAF、KRAS 和 PTEN。显示可操作变异中位数较多的癌症类型包括甲状腺癌、胰腺癌和结直肠癌:总之,综合基因组分析测试在识别基因组异常方面具有重要价值。即使目前没有有效的治疗方法,将来也有可能找到治疗方法。任何癌症都应考虑进行全面的基因组分析测试。
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来源期刊
CiteScore
3.70
自引率
8.30%
发文量
177
审稿时长
3-8 weeks
期刊介绍: Japanese Journal of Clinical Oncology is a multidisciplinary journal for clinical oncologists which strives to publish high quality manuscripts addressing medical oncology, clinical trials, radiology, surgery, basic research, and palliative care. The journal aims to contribute to the world"s scientific community with special attention to the area of clinical oncology and the Asian region. JJCO publishes various articles types including: ・Original Articles ・Case Reports ・Clinical Trial Notes ・Cancer Genetics Reports ・Epidemiology Notes ・Technical Notes ・Short Communications ・Letters to the Editors ・Solicited Reviews
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