Juvenile polyposis syndrome

Topic Completed: 1 August 2015

Minor changes: 31 July 2020

Copyright: 2002-2019,, Inc.

PubMed Search: Juvenile polyposis syndrome [title] colon

Michael Feely, D.O.
Raul S. Gonzalez, M.D.
Page views in 2019: 2,011
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Cite this page: Feely M, Gonzalez R. Juvenile polyposis syndrome. website. Accessed September 29th, 2020.
Definition / general
  • Autosomal dominant syndrome leading to growth of numerous juvenile polyps, predominantly in the colon
  • Encompasses three particular phenotypic groups, including juvenile polyposis of infancy, juvenile polyposis coli (colonic involvement only), and generalized juvenile polyposis
  • Diagnostic criteria is variable:
    • 3 - 10 juvenile polyps, depending on criterion used
    • Juvenile polyps throughout entire GI tract
    • Any number of polyps in a patient with a family history of juvenile polyposis (Histopathology 1988;13:619)
  • Associated risk of upper and or lower GI malignancies is approximately 55% (Ann Surg Oncol 1998;5:751)
  • Juvenile polyposis of infancy is a rare form that usually manifests before age 2, is not hereditable and is associated with a poor prognosis
  • Sites
  • Polyps found throughout the GI tract, with the exception of the juvenile polyposis coli form, which is restricted to the colon
  • Pathophysiology
  • SMAD4 mutations account for up to 20% of familial cases, while BMPR1A mutations are found in approximately 25% of cases (Am J Med Genet 2004;129C:44)
  • Syndrome has incomplete penetrance, and a large proportion of affected individuals have no family history (OMIM - Juvenile polyposis syndrome)
  • Clinical features
  • If symptomatic, children typically present with painless rectal bleeding or prolapsing of polyps through rectum
  • Case reports
  • 51 year old man with juvenile polyposis syndrome affecting the stomach (J Med Case Rep 2008;2:314)
  • Treatment
  • Annual upper and lower endoscopic examinations with polypectomies
  • Surgery reserved for diffuse polyposis not amenable to polypectomy or for associated malignancies
  • Screening of family members recommended
  • Gross images

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    Juvenile polyposis in resected colon

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    Bowel resection

    Microscopic (histologic) description
  • Numerous cystic and dilated crypts or glands with inspissated mucin and occasional intraluminal neutrophils
  • Lamina propria typically edematous with associated lymphocytes, plasma cells and occasional eosinophils and neutrophils
  • Filiform, multilobated forms with increased glandular-to-stroma ratio may be encountered and have been variably termed nonclassic or atypical polyps
  • May contain areas of conventional dysplasia (Arch Pathol Lab Med 1996;120:1032)
  • Microscopic (histologic) images

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    Prominent lamina
    propria with
    edema and
    inflammatory cells

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    Dense stroma


    Differential diagnosis
  • Similar polyps can also occur sporadically in nonsyndromic children and adults
  • Multiple juvenile-type polyps have also been associated with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome (PTEN mutations), as well as hereditary hemorrhagic telangiectasia (SMAD4 / DPC4, ENG, or ACVRL1 mutations)
  • Polyps of Cronkhite-Canada syndrome are histologically similar but intervening mucosa is also involved
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