{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T11:33:14Z","timestamp":1784287994699,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T00:00:00Z","timestamp":1716768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>A constitutional disease\u2010causing variant (DCV) in the <jats:italic>SMAD4<\/jats:italic> or <jats:italic>BMPR1A<\/jats:italic> genes is present in 40%\u201360% of patients with juvenile polyposis syndrome (JPS). The aim of this study was to characterize the clinical course and polyp burden in children with DCV\u2010positive JPS compared to DCV\u2010negative JPS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Demographic, clinical, genetic, and endoscopic data of children with JPS were compiled from eight international centers in the ESPHGAN\/NASPGHAN polyposis working group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 124 children with JPS were included: 69 (56%) DCV\u2010negative and 55 (44%) DCV\u2010positive (53% <jats:italic>SMAD4<\/jats:italic> and 47% <jats:italic>BMPR1A<\/jats:italic>) with a median (interquartile range) follow\u2010up of 4 (2.8\u20136.4) years. DCV\u2010positive children were diagnosed at an older age compared to DCV\u2010negative children [12 (8\u201315.7) years vs. 5 (4\u20137) years, respectively, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001], had a higher frequency of family history of polyposis syndromes (50.9% vs. 1.4%, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001), experienced a greater frequency of extraintestinal manifestations (27.3% vs. 5.8%, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001), and underwent more gastrointestinal surgeries (16.4% vs. 1.4%, <jats:italic>p<\/jats:italic>\u2009=\u20090.002). The incidence rate ratio for the development of new colonic polyps was 6.15 (95% confidence interval 3.93\u20139.63, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001) in the DCV\u2010positive group compared to the DCV\u2010negative group, with an average of 12.2 versus 2 new polyps for every year of follow\u2010up. There was no difference in the burden of polyps between patients with <jats:italic>SMAD4<\/jats:italic> and <jats:italic>BMPR1A<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This largest international cohort of pediatric JPS revealed that DCV\u2010positive and DCV\u2010negative children exhibit distinct clinical phenotype. These findings suggest a potential need of differentiated surveillance strategies based upon mutation status.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jpn3.12257","type":"journal-article","created":{"date-parts":[[2024,5,27]],"date-time":"2024-05-27T10:22:48Z","timestamp":1716805368000},"page":"161-167","source":"Crossref","is-referenced-by-count":9,"title":["Juvenile polyposis syndrome in children: The impact of <i>SMAD4<\/i> and <i>BMPR1A<\/i> mutations on clinical phenotype and polyp burden"],"prefix":"10.1002","volume":"79","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6190-3217","authenticated-orcid":false,"given":"Shlomi","family":"Cohen","sequence":"first","affiliation":[{"name":"Tel Aviv Sourasky Medical Center, affiliated to the Faculty of Medicine, Pediatric Gastroenterology Institute, Dana\u2010Dwek Children's Hospital Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anat","family":"Yerushalmy\u2010Feler","sequence":"additional","affiliation":[{"name":"Tel Aviv Sourasky Medical Center, affiliated to the Faculty of Medicine, Pediatric Gastroenterology Institute, Dana\u2010Dwek Children's Hospital Tel Aviv University Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Rojas","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics University of Texas Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Phen","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics University of Texas Southwestern Medical Center Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Rudnick","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Developmental Biology Washington University School of Medicine St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colleen B.","family":"Flahive","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology Hepatology and Nutrition, Nationwide Children's Hospital The Ohio State University College of Medicine Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven H.","family":"Erdman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology Hepatology and Nutrition, Nationwide Children's Hospital The Ohio State University College of Medicine Columbus Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramit","family":"Magen\u2010Rimon","sequence":"additional","affiliation":[{"name":"Rambam Medical Center, Faculty of Medicine, Pediatric Gastroenterology and Nutrition Institute Ruth Children's Hospital of Haifa, Technion Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Copova","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition University Hospital Motol and 2nd Faculty of Medicine Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Attard","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology and Nutrition, Children's Mercy Hospital Kansas City The University of Missouri in Kansas City School of Medicine Kansas City Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Latchford","sequence":"additional","affiliation":[{"name":"St Mark's Centre for Familial Intestinal Cancer St Mark's Hospital London UK"},{"name":"Department of Surgery and Cancer Imperial College London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warren","family":"Hyer","sequence":"additional","affiliation":[{"name":"St Mark's Hospital National Bowel Hospital London 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