Tanakaya Kohji, Yamaguchi Tatsuro, Hirata Keiji, Yamada Masayoshi, Kumamoto Kensuke, Akiyama Yasuki, Ishimaru Kei, Okamoto Koichi, Kawasaki Yuko, Komine Keigo, Sakamoto Akira, Shigeyasu Kunitoshi, Shibata Yoshiko, Shimamoto Yusaku, Shimodaira Hideki, Sekine Shigeki, Takao Akinari, Takao Misato, Takamizawa Yasuyuki, Takeuchi Yoji, Tanabe Noriko, Taniguchi Fumitaka, Chino Akiko, Cho Hourin, Doi Satoru, Nakajima Takeshi, Nakamori Sakiko, Nakayama Yoshiko, Nagasaki Toshiya, Hasumi Hisashi, Banno Kouji, Hinoi Takao, Fujiyoshi Kenji, Horimatsu Takahiro, Masuda Kenta, Miguchi Masashi, Mizuuchi Yusuke, Miyakura Yasuyuki, Mutoh Michihiro, Yoshioka Takahiro, Tanaka Shinji, Sakamoto Kazuhiro, Sakamaki Kentaro, Itabashi Michio, Ishida Hideyuki, Tomita Naohiro, Sugihara Kenichi, Ajioka Yoichi
Department of Surgery, National Hospital Organization Iwakuni Clinical Center, 1-1-1 Atago-Machi, Iwakuni, 740-8510, Japan.
Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo, Japan.
Int J Clin Oncol. 2026 Jan;31(1):1-66. doi: 10.1007/s10147-025-02892-1. Epub 2025 Nov 10.
Approximately 5% of all colorectal cancers have a strong genetic component and are classified as hereditary colorectal cancer (HCRC). Some of the unique features commonly seen in HCRC cases include early age of onset, synchronous/metachronous cancer occurrence, and multiple cancers in other organs. These characteristics require different management approaches, including diagnosis, treatment or surveillance, from those used in the management of sporadic colorectal cancer. Accurate diagnosis of HCRC is essential because it enables targeted surveillance and risk reduction strategies that improve patient outcomes. Recent genetic advances revealed several causative genes for polyposis and non-polyposis syndromes. The Japanese Society for Cancer of the Colon and Rectum (JSCCR) first published guidelines for the management of HCRC in 2012, with subsequent revisions every 4 years. The 2024 update to the JSCCR guidelines for HCRC was developed by meticulously reviewing evidence from systematic reviews and the consensus of the JSCCR HCRC Guidelines Committee, which includes representatives from patient advocacy groups for FAP and Lynch syndrome. These guidelines provide an up-to-date summary of HCRC, along with clinical recommendations for managing FAP and Lynch syndrome.
所有结直肠癌中约5%具有很强的遗传成分，被归类为遗传性结直肠癌（HCRC）。HCRC病例中常见的一些独特特征包括发病年龄早、同时性/异时性癌症发生以及其他器官的多发性癌症。这些特征需要与散发性结直肠癌管理中使用的方法不同的管理方法，包括诊断、治疗或监测。准确诊断HCRC至关重要，因为它能够实现有针对性的监测和降低风险策略，从而改善患者预后。最近的遗传学进展揭示了几种息肉病和非息肉病综合征的致病基因。日本结直肠癌学会（JSCCR）于2012年首次发布了HCRC管理指南，随后每4年修订一次。2024年JSCCR的HCRC指南更新版是通过精心审查系统评价的证据以及JSCCR HCRC指南委员会的共识制定的，该委员会包括来自FAP和林奇综合征患者倡导团体的代表。这些指南提供了HCRC的最新总结，以及管理FAP和林奇综合征的临床建议。
