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日本结直肠癌精准医学的现状

Current Status of Precision Medicine in Colorectal Cancer in Japan.

作者信息

Kojitani Yoshiki, Takeda Masayuki

机构信息

Department of Cancer Genomics and Medical Oncology, Nara Medical University, 840 Shijo-Cho, Kashihara 634-8521, Nara, Japan.

出版信息

Int J Mol Sci. 2025 May 23;26(11):5029. doi: 10.3390/ijms26115029.

Abstract

Colorectal cancer (CRC) remains a major health burden in Japan, with precision medicine playing an increasingly critical role in treatment optimization. Key biomarkers, including , , microsatellite instability/mismatch repair, and human epidermal growth factor receptor 2, can be used as a guide for molecularly targeted therapies and immunotherapy. Advances in molecular diagnostics, including comprehensive genomic profiling, have enabled more precise treatment selection such as and fusions. Nationwide initiatives, such as c-CAT and SCRUM-Japan, can leverage real-world data to refine clinical strategies. Recent developments in circulating tumor DNA analysis have led to novel approaches for minimal residual disease monitoring, as demonstrated by the CIRCULATE-Japan GALAXY study. However, certain challenges persist, including the time required for genetic testing, the limited availability of targeted therapies, and disparities in access to molecular tumor boards. This review summarizes the current landscape of precision medicine in CRC in Japan, emphasizing key biomarkers, genetic testing strategies, targeted therapies, and emerging technologies. Future research should focus on expanding clinical trial access, accelerating drug approvals, and integrating real-world data into clinical practice to further advance precision medicine.

摘要

结直肠癌(CRC)在日本仍然是一项重大的健康负担,精准医学在优化治疗方面发挥着越来越关键的作用。包括 、 、微卫星不稳定性/错配修复以及人表皮生长因子受体2在内的关键生物标志物,可作为分子靶向治疗和免疫治疗的指导。分子诊断技术的进步,包括全面基因组分析,使得诸如 融合和 融合等更精确的治疗选择成为可能。全国性举措,如c-CAT和日本SCRUM,可以利用真实世界数据来完善临床策略。循环肿瘤DNA分析的最新进展带来了用于监测微小残留病的新方法,日本CIRCULATE-Japan GALAXY研究就证明了这一点。然而,一些挑战依然存在,包括基因检测所需时间、靶向治疗药物供应有限以及获取分子肿瘤委员会服务的差异。本综述总结了日本CRC精准医学的当前现状,重点介绍了关键生物标志物、基因检测策略、靶向治疗和新兴技术。未来的研究应专注于扩大临床试验机会、加快药物审批,并将真实世界数据整合到临床实践中,以进一步推动精准医学发展。

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