Clinical and endoscopic data in juvenile polyposis syndrome in preadolescent children: a multicenter experience from the United States.

OBJECTIVES: Juvenile polyposis syndrome (JPS) is a hereditary syndrome associated with several germline mutations, and carries a significant risk for future cancer development. Clinical data of JPS in children are sparse, and clinical guidelines are mainly derived from the adult population. In the present study, we describe the largest series of children diagnosed with JPS and present clinical, endoscopical, and histologic data.
METHODS: A retrospective study of children with JPS was performed. Children were recruited from 3 academic pediatric gastroenterology centers. Clinical presentation, colonoscopic description, and histologic and demographic data were collected at initial presentation and at each future colonoscopy surveillance.
RESULTS: Thirty-six children were included in the study with a mean age of 7.35 years and male to female ratio of 1.25:1. The most common clinical presentation was gastrointestinal bleeding (100%). Family history of colon cancer was noted in 28% of children. A total of 366 polyps were removed, of which 90.5% were pedunculated and 9.5% were sessile. Up to 4 colonoscopic, follow-up surveillances were documented: 21 children had 1 surveillance, 10 children had 2 surveillances, 3 children had 3 surveillances, and 1 child had 4 surveillances. Polyps were evenly distributed throughout the colon. Most of the polyps (99.2%) had benign histology (inflammatory changes) and 3 (0.8%) involved focal adenomatous changes. No adenocarcinoma was identified in any of the 366 polyps.
CONCLUSIONS: Colonic polyps in JPS are rarely malignant during the pediatric age period. Our data suggest that the recommended colonic surveillance in children should be modified.