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juvenile polyp

Thursday 18 March 2004

Definition: Juvenile polyps are hamartomatous polyps found primarily in infants and children. Hamartomatous polyp that may occur sporadically or as part of polyposis syndrome

Clinical synopsis

Patients usually present at early age with anemia, diarrhea, or bleeding
Juvenile polyposis syndrome patients typically have between 50-200 polyps
Risk of colorectal cancer
Mean age for colon cancer in juvenile polyposis patients is 35 years
Risk is approximately 68% by 60 years of age

Macroscopy

Size is variable, but most measure around 1.0 cm in greatest dimension
Majority of polyps (> 2/3) are pedunculated

Microscopy

- Marked expansion of lamina propria by loose, edematous, and inflamed stroma
- Epithelial component is cystically dilated and shows variable degree of inflammation
- Surface ulceration may be present
- Gastric polyps resemble hyperplastic polyps or those seen in Cronkhite-Canada syndrome
- Dysplastic change or carcinoma may be present in syndromic patients (JPS).

Predisposition

- juvenile polyposis (JP) (MIM.174900) (MADH4 and BMPR1A mutations)
- Cowden syndrome (CS) (MIM.158350) (PTEN mutations)
- Bannayan-Riley-Ruvalcaba syndrome (BRRS) (MIM.153480) (PTEN mutations)
- neurofibromatosis type 1 (NF1) (15150783)

NB: Although solitary juvenile polyps are benign lesions, but when present in juvenile polyposis (JP), they may lead to gastrointestinal cancers.

References

- Merg A, Howe JR. Genetic conditions associated with intestinal juvenile polyps. Am J Med Genet C Semin Med Genet. 2004 Aug 15;129(1):44-55. PMID: 15264272

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