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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.
Images
Enterobius vermicularis in a juvenile polyp
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
