Clinical and endoscopic data in juvenile polyposis syndrome in preadolescent children: a multicenter experience from
Yoram Elitsur1, Jonathan E Teitelbaum, Mary Rewalt
1Department of Pediatrics, Gastroenterology Section, Joan C. Edwards School of Medicine, Marshall University, Huntington, WV 25701, USA. elitsur@marshall.edu
Insights
Juvenile polyposis syndrome (JPS) polyps in children are rarely malignant, with most showing benign histology. This study suggests current colon cancer surveillance guidelines for pediatric JPS patients may need modification.
Area of Science:
- Pediatric Gastroenterology
- Genetics
- Oncology
Background:
- Juvenile polyposis syndrome (JPS) is a hereditary condition linked to germline mutations, increasing cancer risk.
- Existing clinical guidelines for JPS are primarily based on adult data, with limited information available for pediatric cases.
- Understanding JPS in children is crucial for accurate diagnosis and management.
Purpose of the Study:
- To describe the largest series of children diagnosed with JPS.
- To present comprehensive clinical, endoscopical, and histological data for pediatric JPS patients.
- To inform potential modifications to current surveillance protocols for children with JPS.
Main Methods:
- A retrospective study involving 36 children diagnosed with JPS across three academic pediatric gastroenterology centers.
- Collection of clinical presentation, colonoscopic findings, and histological data at initial diagnosis and subsequent surveillance colonoscopies.
- Analysis of demographic and polyp characteristics, including histology and distribution.
Main Results:
- Gastrointestinal bleeding was the most common presentation (100%) in the 36 pediatric patients.
- A total of 366 polyps were removed, with 99.2% exhibiting benign histology and no adenocarcinomas identified.
- Focal adenomatous changes were found in only 0.8% of polyps, indicating a low malignancy rate in this pediatric cohort.
Conclusions:
- Colonic polyps in children with Juvenile polyposis syndrome are infrequently malignant.
- The findings suggest a need to re-evaluate and potentially modify current colonoscopic surveillance recommendations for pediatric JPS patients.
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.
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