Clinical Guidelines for Diagnosis and Management of Cowden Syndrome/PTEN Hamartoma Tumor Syndrome in Children and Adults-Secondary Publication
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- Takayama Tetsuji
- Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences
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- Muguruma Naoki
- Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences
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- Igarashi Masahiro
- Department of Lower GI Medicine, Cancer Institute Hospital of JFCR
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- Ohsumi Shozo
- Department of Breast Oncology, NHO Shikoku Cancer Center
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- Oka Shiro
- Department of Gastroenterology, Hiroshima University Hospital
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- Kakuta Fumihiko
- Division of General Pediatrics and Gastroenterology, Miyagi Children's Hospital
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- Kubo Yoshiaki
- Department of Dermatology, Tokushima University Graduate School of Biomedical Sciences
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- Kumagai Hideki
- Department of Pediatrics, Jichi Medical University
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- Sasaki Mika
- Department of Pediatrics, National Hospital Organization Morioka Medical Center
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- Sugai Tamotsu
- Department of Molecular Diagnostic Pathology, Iwate Medical University
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- Sugano Kokichi
- Oncogene Res Unit, Cancer Prevention Unit Tochigi Cancer Center Research Institute, Cancer Prevention, Genetic Counseling Clinic, Genome Center, Tochigi Cancer Center Department of Genetic Medicine, Sasaki Foundation, Kyoundo Hospital
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- Takeda Yuko
- Faculty of Nursing and Medical Care, Graduate School of Health Management, Keio University
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- Doyama Hisashi
- Department of Gastroenterology, Ishikawa Prefectural Central Hospital
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- Banno Kouji
- Department of Obstetrics and Gynecology, Keio University School of Medicine
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- Fukahori Suguru
- Department of Pediatric Surgery, Kurume University School of Medicine
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- Furukawa Yoichi
- Division of Clinical Genome Research, The Institute of Medical Science, The University of Tokyo
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- Horimatsu Takahiro
- Department of Real World Data Research and Development, Graduate School of Medicine, Kyoto University
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- Ishikawa Hideki
- Department of Molecular-Targeting Prevention, Kyoto Prefectural University of Medicine Ishikawa Gastroenterology Clinic
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- Iwama Takeo
- Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University
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- Okazaki Yasushi
- Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
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- Saito Yutaka
- Endoscopy Division, National Cancer Center Hospital
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- Matsuura Nariaki
- Osaka International Cancer Institute
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- Mutoh Michihiro
- Department of Molecular-Targeting Prevention, Kyoto Prefectural University of Medicine
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- Tomita Naohiro
- Cancer Treatment Center, Toyonaka Municipal Hospital
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- Akiyama Takashi
- Department of Pediatric Surgery, Chuden Hospital
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- Yamamoto Toshiki
- Division of Gastroenterology and Hepatology, Department of Medicine, Nihon University School of Medicine
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- Ishida Hideyuki
- Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University
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- Nakayama Yoshiko
- Department of Pediatrics, Shinshu University School of Medicine
説明
<p>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.</p><p>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.</p>
収録刊行物
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- Journal of the Anus, Rectum and Colon
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Journal of the Anus, Rectum and Colon 7 (4), 284-300, 2023-10-25
一般社団法人日本大腸肛門病学会