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Symptomatic colonic polyps in childhood: not so benign
E J Hoffenberg1, A Sauaia, T Maltzman
1Department of Pediatrics, University of Colorado School of Medicine, and The Children's Hospital, Denver, USA.
Insights
Juvenile polyposis coli (JPC) is common in children with symptomatic polyps, often presenting with anemia and right-colon polyps. Further research is needed on the familial risk of polyps and colorectal cancer in JPC cases.
Area of Science:
- Pediatric Gastroenterology
- Gastrointestinal Pathology
- Clinical Genetics
Background:
- The clinical spectrum of symptomatic polyps and the prevalence of familial polyposis in children are not well-defined.
- This study investigated a cohort of children with juvenile polyposis coli (JPC) and non-JPC polyps.
Purpose of the Study:
- To define the clinical characteristics and frequency of JPC in children presenting with symptomatic colonic polyps.
- To compare JPC cases with isolated juvenile polyps regarding polyp burden, associated findings, and molecular markers.
Main Methods:
- Retrospective review of endoscopic records for children with symptomatic colonic polyps and no family history.
- Defined JPC as ≥10 juvenile polyps or any juvenile polyp in a relative.
- Analyzed polyps for Ki-ras mutations, p53 overexpression, and aneuploidy.
Main Results:
- Seventy-eight children were identified; 12% had JPC, 84% had isolated juvenile polyps.
- JPC cases had significantly more polyps, a higher likelihood of anemia, adenomatous changes, and right-colon polyps.
- No Ki-ras mutations, p53 overexpression, or aneuploidy were detected in the polyps.
Conclusions:
- Juvenile polyposis coli is a significant diagnosis in children with symptomatic polyps, associated with anemia, adenomas, and right-sided polyps.
- The study highlights the need for further investigation into the risk of polyps and colorectal cancer in relatives of JPC patients.
Background:
The clinical spectrum of symptomatic polyps and the frequency of familial polyposis is not well defined in children. In the present study, a series of children with juvenile polyposis coli (JPC) and non-JPC polyps were studied.
Methods:
Children with symptomatic colonic polyps and negative family history of polyps were ascertained by review of endoscopic records. Juvenile polyposis coli was defined as 10 or more juvenile polyps or any juvenile polyp in a relative of an index case of JPC. Polyps were tested for Ki-ras mutations, p53 overexpression, and aneuploidy.
Results:
Seventy-eight children (age range, 0.4-18 years) were identified, all evaluated for lower gastrointestinal bleeding. Nine (12%) had JPC, 66 (84%) had isolated juvenile polyps, and 3 (4%) had other types of polyps. The JPC and non-JPC groups were similar in age (p = 0.4) and symptom duration (p = 0.3). The JPC group had more polyps (p = 0.0001), and greater likelihood of anemia (p = 0.01), polyps with adenomatous change (p = 0.03), and right-colon polyps (p = 0.001). In three of eight JPC families, polyps were identified in asymptomatic first-degree relatives. No abnormalities in Ki-ras, p53, or aneuploidy were identified.
Conclusions:
Juvenile polyposis coli is common in children with symptomatic polyps, and is associated with anemia, right-colon polyps, and adenomas. The risk of polyps and of colorectal cancer in relatives of persons with JPC requires further study.