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Japanese Clinical Guidelines 2020 for Diagnosis and Treatment of Peutz-Jeghers Syndrome in Children and Adults

DOI Open Access
  • Yamamoto Hironori
    Department of Medicine, Division of Gastroenterology, Jichi Medical University
  • Abe Takashi
    Department of Gastroenterology, Hanwa Sumiyoshi General Hospital
  • Ishiguro Shingo
    PCL JAPAN, INC
  • Uchida Keiichi
    Department of Pediatric Surgery, Mie University Hospital
  • Kawasaki Yuko
    University of Hyogo, College of Nursing
  • Kumagai Hideki
    Department of Pediatrics, Jichi Medical University
  • Saida Yoshihisa
    Department of Surgery, Toho University Ohashi Medical Center
  • Sano Yasushi
    Gastrointestinal Center & Institute of Minimallyinvasive Endoscopic Care, Sano Hospital
  • Takeuchi Yoji
    Department of Gastrointestinal Oncology, Osaka International Cancer Institute
  • Tajika Masahiro
    Depertment of Endoscopy, Aichi Cancer Center
  • Nakajima Takeshi
    Clinical Genetics, Cancer Institute Hospital
  • Banno Kouji
    Departmint of Obstetrics and Gynecology, Keio University School of Medicine
  • Funasaka Yoko
    Department of Dermatology, Nippon Medical School
  • Hori Shinichiro
    Department of Cancer Genomic Medicine, NHO Shikoku Cancer Center
  • Yamaguchi Tatsuro
    Department of Surgery and Department of Clinical Genetics, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital
  • Yoshida Teruhiko
    Department of Genetic Medicine and Service, National Cancer Center Hospital
  • Sakamoto Hirotsugu
    Department of Medicine, Division of Gastroenterology, Jichi Medical 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

Bibliographic Information

Other Title
  • 小児・成人のためのPeutz-Jeghers 症候群診療ガイドライン(2020 年版)

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Abstract

Peutz-Jeghers syndrome (PJS) is a rare disease characterized by the presence of hamartomatous polyposis throughout the gastrointestinal tract, except for the esophagus, along with characteristic mucocutaneous pigmentation. It is caused by germline pathogenic variants of the STK11 gene that exhibits an autosomal dominant mode of inheritance. PJS may be identified by multigene panel testing in patients with cancer. In this syndrome, there is persistent development of hamartomatous polyps in the small bowel. Such polyps may cause bleeding, intestinal obstruction, and intussusception as they grow larger. The initial gastrointestinal surveillance should be performed at about eight years of age even if no symptoms are present. Endoscopic polypectomy should be performed for small bowel polyps with a diameter of 10-15 mm or larger. Appropriate surveillance is required because patients with this syndrome may develop malignant tumors of different organs such as the digestive tracts, breasts, pancreas, uterus, ovaries, lungs, and testes. The present clinical guidelines explain the principles in the diagnosis and management of PJS, 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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