Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults―Secondary Publication

Autor: Tetsuji Takayama, Naoki Muguruma, Masahiro Igarashi, Shozo Ohsumi, Shiro Oka, Fumihiko Kakuta, Yoshiaki Kubo, Hideki Kumagai, Mika Sasaki, Tamotsu Sugai, Kokichi Sugano, Yuko Takeda, Hisashi Doyama, Kouji Banno, Suguru Fukahori, Yoichi Furukawa, Takahiro Horimatsu, Hideki Ishikawa, Takeo Iwama, Yasushi Okazaki, Yutaka Saito, Nariaki Matsuura, Michihiro Mutoh, Naohiro Tomita, Takashi Akiyama, Toshiki Yamamoto, Hideyuki Ishida, Yoshiko Nakayama
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Journal of the Anus, Rectum and Colon, Vol 7, Iss 4, Pp 284-300 (2023)
Druh dokumentu: article
ISSN: 2432-3853
DOI: 10.23922/jarc.2023-028
Popis: 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.
Databáze: Directory of Open Access Journals