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
  • Igarashi Masahiro
    Department of Lower GI Medicine, Cancer Institute Hospital
  • Ohsumi Shozo
    Department of Breast Oncology, NHO Shikoku Cancer Center
  • Oka Shiro
    Department of Gastroenterology and Metabolism, Hiroshima University Hospital
  • Kakuta Fumihiko
    Division of General Pediatrics and Gastroenterology, Miyagi Children’s Hospital
  • Kubo Yoshiaki
    Department of Dermatology, Tokushima University Graduate School of Medical Science
  • Kumagai Hideki
    Department of Pediatrics, Jichi Medical University
  • Sasaki Mika
    Department of Pediatrics, National Hospital Organization Morioka Medical Center
  • Sugai Tamotsu
    Department of Molecular Diagnostic Pathology, Iwate Medical University
  • Sugano Kokichi
    Oncogene Res Unit, Cancer Prevention Unit Tochigi Cancer Center Reseach Institute・Cancer Prevention, Genetic Counseling Clinic, Genome Center, Tochigi Cancer Center
  • Takeda Yuko
    Faculty of Nursing and Medical care, Graduate School of Health Management, Keio University
  • Doyama Hisashi
    Department of Gastroenterology, Ishikawa Prefectural Central Hospital
  • Banno Kouji
    Departmint of Obstetrics and Gynecology, Keio University School of Medicine
  • Fukahori Suguru
    Department of pediatric surgery, Kurume university school of medicine
  • Furukawa Yoichi
    Institute of Medical Science, The University of Tokyo
  • Horimatsu Takahiro
    Department of Real World Data Research and Development, Graduate School of Medicine, Kyoto University
  • Muguruma Naoki
    Department of Gastroenterology and Oncology, Instites of Biomedical Science, Tokushima University Graduate School
  • Ishikawa Hideki
    Department of Molecular-Targeting Prevention, Kyoto Prefectural University of Medicine・Ishikawa Gastroenterology Clinic
  • Iwama Takeo
    Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University
  • Okazaki Yasushi
    Intractable Disease Research Center, Graduate School of Medicine, Juntendo University
  • Saito Yutaka
    Endoscopy Division, National Cancer Center Hospital
  • Matsuura Nariaki
    Osaka International Cancer Institute
  • Mutoh Michihiro
    Department of Molecular-Targeting Prevention, Graduate School of Medical Science, Kyoto Prefectural University of Medicine
  • Tomita Naohiro
    Cancer Treatment Center, Toyonaka Municipal Hospital
  • Akiyama Takashi
    Department of Pediatric Surgery, Chuden Hospital
  • Yamamoto Toshiki
    Division of Gastroenterology and Hepatology, Department of Medicine, Nihon University School of Medicine
  • Ishida Hideyuki
    Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University
  • Nakayama Yoshiko
    Department of Pediatrics, Shinshu University School of Medicine

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Other Title
  • 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.

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