Colon
Syndromes
Juvenile polyposis syndrome


Topic Completed: 4 March 2021

Minor changes: 8 March 2021

Copyright: 2002-2021, PathologyOutlines.com, Inc.

PubMed Search: Juvenile polyposis syndrome [title] colon

Michael Feely, D.O.
Raul S. Gonzalez, M.D.
Page views in 2020: 1,718
Page views in 2021 to date: 467
Cite this page: Feely M, Gonzalez RS. Juvenile polyposis syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/colontumorjuvenilepolyposissx.html. Accessed March 8th, 2021.
Definition / general
  • Autosomal dominant syndrome leading to growth of numerous juvenile polyps, predominantly in the colon
Essential features
  • Syndrome that encompasses 3 particular phenotypic groups, including juvenile polyposis of infancy, juvenile polyposis coli (colonic involvement only) and generalized juvenile polyposis
  • Diagnostic criteria:
    • 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 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
Clinical features
  • If symptomatic, children typically present with painless rectal bleeding or prolapsing of polyps through rectum
Case reports
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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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

Videos

Colonoscopy of juvenile polyposis

Sample pathology report
  • Colon, total colectomy:
    • Colon with numerous juvenile polyps, some with focal low grade dysplasia (see comment)
    • Negative for high grade dysplasia or malignancy.
    • Eight benign lymph nodes.
    • Comment: The findings are consistent with the patient’s reported history of juvenile polyposis. Numerous grossly identifiable polyps were submitted for microscopy, including the largest.
Differential diagnosis
Board review style question #1
Which of the following is a criterion for diagnosis of juvenile polyposis syndrome?

  1. 1 juvenile polyp measuring > 5 cm
  2. At least 5 juvenile polyps in a patient with a family history of juvenile polyposis
  3. Juvenile polyps throughout entire GI tract
  4. More than 25 juvenile polyps
Board review style answer #1
C. Juvenile polyps throughout entire GI tract

Comment Here

Reference: Juvenile polyposis syndrome
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