Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication
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- Matsumoto Takayuki
- Division of Gastroenterology, Department of Medicine, Iwate Medical University
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- Umeno Junji
- Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University
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- Jimbo Keisuke
- Department of Pediatrics, Juntendo University Faculty of Medicine
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- Arai Masami
- Department of Clinical Genetics, Juntendo University, Graduate School of Medicine
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- Iwama Itaru
- Division of Gastroenterology and Hepatology, Saitama Children's Medical Center
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- Kashida Hiroshi
- Department of Gastroenterology and Hepatology, Kindai University Faculty of Medicine
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- Kudo Takahiro
- Department of Pediatrics, Juntendo University Faculty of Medicine
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- Koizumi Koichi
- Department of Gastroenterology, Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital, Tokyo
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- Sato Yasushi
- Department of Community Medicine for Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences
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- Sekine Shigeki
- Division of Diagnostic Pathology, National Cancer Center Hospital
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- Tanaka Shinji
- Department of Endoscopy, Hiroshima University Hospital
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- Tanakaya Kohji
- Department of Surgery, Iwakuni Clinical Center
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- Tamura Kazuo
- Division of Genetic Medicine, Graduate School of Science and Engineering Research, Kindai University
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- Hirata Keiji
- Department of Surgery 1, University of Occupational and Environmental Health
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- Fukahori Suguru
- Department of Pediatric Surgery, Kurume University School of Medicine
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- Esaki Motohiro
- Division of Gastroenterology, Department of Internal Medicine, Faculty of Medicine, Saga University
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- Ishikawa Hideki
- Department of Molecular-Targeting Prevention, Graduate School of Medical Science, 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
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Description
<p>Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. SMAD4 or BMPR1A is known as a causative gene of JPS. 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. Some patients with JPS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood. JPS is classified into three categories according to phenotypic features of polyp distributions, including 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 leading to gastric cancer. Pathogenic variants of SMAD4 are also associated with hereditary hemorrhagic telangiectasia-JPS complex, inducing regular cardiovascular survey. Despite growing concerns regarding the managing JPS in Japan, there are no practical guidelines. To address this situation, the guideline committee was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labor and Welfare involving specialists from multiple academic societies. The present clinical guidelines explain the principles in the diagnosis and management of JPS with three clinical questions and corresponding recommendations based on a careful review of the evidence and involve incorporating the concept of the Grading of Recommendations, Assessment, Development, and Evaluation system. Herein, we present the clinical practice guidelines of JPS to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with JPS.</p>
Journal
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- Journal of the Anus, Rectum and Colon
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Journal of the Anus, Rectum and Colon 7 (2), 115-125, 2023-04-25
The Japan Society of Coloproctology