Japanese Clinical Guidelines 2020 for Diagnosis and Treatment of Cowden syndrome/PTEN hamartoma tumor syndrome in Children and Adults
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- Takayama Tetsuji
- Department of Gastroenterology and Oncology, Instites of Biomedical Science, Tokushima University Graduate School
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- Igarashi Masahiro
- Department of Lower GI Medicine, Cancer Institute Hospital
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- Ohsumi Shozo
- Department of Breast Oncology, NHO Shikoku Cancer Center
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- Oka Shiro
- Department of Gastroenterology and Metabolism, 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 Medical Science
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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 Reseach Institute・Cancer Prevention, Genetic Counseling Clinic, Genome Center, Tochigi Cancer Center
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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
- Departmint 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
- 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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- Muguruma Naoki
- Department of Gastroenterology and Oncology, Instites of Biomedical Science, Tokushima University Graduate School
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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, Graduate School of Medical Science, 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
Bibliographic Information
- Other Title
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- 小児・成人のためのCowden 症候群/PTEN 過誤腫症候群診療ガイドライン（2020 年版）
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Abstract
Cowden syndrome (CS)/PTEN hamartoma tumor syndrome (PHTS) is an autosomal-dominantly inherited rare condition caused by germline pathogenic variants of the PTEN gene. It is associated with multiple hamartomatous lesions 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 by twenties. This syndrome is occasionally diagnosed in childhood by multiple gastrointestinal lesions, autism spectrum disorders, and intellectual disability. CS/PHTS may be identified by multigene panel testing in patients with cancer. Appropriate surveillance is required because patients may develop malignant tumors such as the breast cancer, thyroid cancer, endometrial cancer, colorectal cancer, and renal cancer. The present clinical guidelines explain the principles in the diagnosis and management of CS/PHTS, together with four clinical questions and corresponding recommendations. The guidelines have been designed to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent and adult patients with the disease.
Journal
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- Journal of Hereditary Tumors
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Journal of Hereditary Tumors 20 (2), 93-114, 2020
The Japanese Society for Hereditary Tumors
