Japanese Clinical Guidelines 2020 for Diagnosis and Treatment of Juvenile polyposis syndrome in Children and Adults

DOI
  • Matsumoto Takayuki
    Division of Gastroenterology, Department of Medicine, Iwate Medical University
  • Arai Masami
    Clinical Genetics, Juntendo University Graduate School of Medicine
  • Iwama Itaru
    Division of Gastroenterology and Hepatology, Saitama Childeren's Medical Center
  • Kashida Hiroshi
    Department of Gastroenterology and Hepatology, Kindai University Faculty of Medicine
  • Kudo Takahiro
    Department of Pediatrics, Juntendo University Faculty of Medicine
  • Koizumi Koichi
    Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital
  • Sato Yasushi
    Department of Community Medicine for Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences
  • Sekine Shigeki
    Division of Diagnostic Pathology, National Cancer Center Hospital
  • Tanaka Shinji
    Department of Endoscopy, Hiroshima University Hospital
  • Tanakaya Kohji
    Department of Surgery, Iwakuni Clinical Center
  • Tamura Kazuo
    Division of Genetic Medicine, Master of Science, Graduate School of Science and Engineering Research, Kindai University
  • Hirata Keiji
    Department of Surgery1, University of Occupational and Environmental Health
  • Fukahori Suguru
    Department of pediatric surgery, Kurume university school of medicine
  • Esaki Motohiro
    Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, Saga University
  • 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・成人のための若年性ポリポーシス症候群診療ガイドライン（2020 年版）

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Abstract

Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. It is caused by germline pathogenic variants of the SMAD4 or BMPR1A. Approximately 75% of newly diagnosed cases have an autosomal-dominantly inherited condition, whereas 25% are sporadic without previous history of polyposis in the family pedigree. CS/PHTS may be identified by multigene panel testing in patients with cancer. JPS is classified into three categories according to phenotypic features of polyp distribution. These include generalized juvenile polyposis, juvenile polyposis coli, and juvenile polyposis of the stomach. Juvenile polyposis of the stomach is caused by germline pathogenic variants of SMAD4 with a high risk for the development of gastric cancer. Pathogenic variant of SMAD4 is also associated with hereditary hemorrhagic telangiectasia-JPS complex, which needs regular survey for cardiovascular system. The present clinical guidelines explain the principles in the diagnosis and management of JPS, together with three 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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