Takayama Tetsuji, Muguruma Naoki, Igarashi Masahiro, Ohsumi Shozo, Oka Shiro, Kakuta Fumihiko, Kubo Yoshiaki, Kumagai Hideki, Sasaki Mika, Sugai Tamotsu, Sugano Kokichi, Takeda Yuko, Doyama Hisashi, Banno Kouji, Fukahori Suguru, Furukawa Yoichi, Horimatsu Takahiro, Ishikawa Hideki, Iwama Takeo, Okazaki Yasushi, Saito Yutaka, Matsuura Nariaki, Mutoh Michihiro, Tomita Naohiro, Akiyama Takashi, Yamamoto Toshiki, Ishida Hideyuki, Nakayama Yoshiko
Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Department of Lower GI Medicine, Cancer Institute Hospital of JFCR, Tokyo, Japan.
J Anus Rectum Colon. 2023 Oct 25;7(4):284-300. doi: 10.23922/jarc.2023-028. eCollection 2023.
Cowden syndrome (CS)/ hamartoma tumor syndrome (PHTS) is a rare autosomal dominantly inherited condition caused by germline pathogenesis. It is associated with multiple hamartomatous lesions occurring in various organs and tissues, including the gastrointestinal tract, skin, mucous membranes, breast, thyroid, endometrium, and brain. Macrocephaly or multiple characteristic mucocutaneous lesions commonly develop in individuals in their 20s. This syndrome is occasionally diagnosed in childhood due to the occurrence of multiple gastrointestinal polyps, autism spectrum disorders, and intellectual disability. CS/PHTS can be diagnosed taking the opportunity of multigene panel testing in patients with cancer. Appropriate surveillance for early diagnosis of associated cancers is required because patients have a high risk of cancers including breast, thyroid, colorectal, endometrial, and renal cancers. Under these circumstances, there is growing concern regarding the management of CS/PHTS in Japan, but there are no available practice guidelines. To address this situation, the guideline committee, which included specialists from multiple academic societies, was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labour, and Welfare, Japan. The present clinical guidelines explain the principles in the diagnosis and management of CS/PHTS, together with four clinical questions and the corresponding recommendations, incorporating the concept of the Grading of Recommendations Assessment, Development, and Evaluation system. Herein, we present an English version of the guideline, some of which have been updated, to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with CS/PHTS.
考登综合征（CS）/错构瘤肿瘤综合征（PHTS）是一种由种系发病机制引起的罕见常染色体显性遗传病。它与发生在各种器官和组织中的多个错构瘤性病变有关，包括胃肠道、皮肤、黏膜、乳腺、甲状腺、子宫内膜和脑。巨头畸形或多种特征性黏膜皮肤病变通常在20多岁的个体中出现。由于出现多个胃肠道息肉、自闭症谱系障碍和智力障碍，该综合征偶尔在儿童期被诊断出来。CS/PHTS可在癌症患者进行多基因检测时被诊断出来。由于患者患乳腺癌、甲状腺癌、结直肠癌、子宫内膜癌和肾癌等癌症的风险很高，因此需要进行适当的监测以早期诊断相关癌症。在这种情况下，日本对CS/PHTS的管理越来越受到关注，但目前尚无可用的实践指南。为了解决这一问题，由日本厚生劳动省授予的罕见和难治性疾病研究小组组织了一个包括多个学术团体专家的指南委员会。本临床指南解释了CS/PHTS诊断和管理的原则，以及四个临床问题和相应的建议，并纳入了推荐分级评估、制定和评价系统的概念。在此，我们提供该指南的英文版本，其中一些内容已经更新，以促进对CS/PHTS的儿科、青少年和成年患者进行准确诊断和适当管理的无缝实施。
