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Abstract：
Cowden syndrome (CS)/PTEN 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.
摘要：
Cowden综合征（CS）/PTEN错构瘤肿瘤综合征（PHTS）是一种罕见的常染色体显性遗传性疾病，由种系发病机制引起。它与发生在各种器官和组织中的多个错构瘤病变有关，包括胃肠道,皮肤,粘膜,乳房,甲状腺，子宫内膜,和大脑。大头畸形或多种特征性皮肤粘膜病变通常发生在20多岁的个体中。由于多发性胃肠道息肉的发生，这种综合征偶尔在儿童时期被诊断出来，自闭症谱系障碍，智力残疾。CS/PHTS可以利用癌症患者的多基因小组测试的机会来诊断。由于患者患乳腺癌的风险很高，因此需要对相关癌症进行适当的早期诊断监测，甲状腺，结直肠,子宫内膜,和肾癌。在这种情况下,在日本，人们越来越关注CS/PHTS的管理，但是没有可用的实践指南。为了解决这种情况，指导委员会，其中包括来自多个学术团体的专家，由卫生部授予的罕见和难治疗疾病研究小组组织，劳工,和福利，日本。本临床指南解释了CS/PHTS的诊断和管理原则。连同四个临床问题和相应的建议，结合建议评估分级的概念，发展,和评价体系。在这里，我们提供了该指南的英文版，其中一些已经更新，促进儿科准确诊断和适当管理的无缝实施，青春期,和成人CS/PHTS患者。
