Colon

Syndromes

Gardner syndrome



Last author update: 24 February 2021
Last staff update: 3 December 2021

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PubMed Search: Gardner syndrome [title] colon tumor

Jennifer Findeis-Hosey, M.D.
Raul S. Gonzalez, M.D.
Page views in 2021: 2,185
Page views in 2022 to date: 1,296
Cite this page: Findeis-Hosey J, Gonzalez RS. Gardner syndrome. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/colontumorgardner.html. Accessed August 13th, 2022.
Definition / general
Essential features
  • Features of FAP and extraintestinal lesions, including desmoid tumors, bone osteomas and fibromas
  • Due to a mutation in the APC tumor suppressor gene
Terminology
  • Rarely also called Plenk-Gardner syndrome
Epidemiology
  • Incidence of 1 per million in U.S.
Sites
  • Colonic adenomatous polyps plus extraintestinal features, including multiple osteomas (skull, mandible and long bones), epidermal cysts, desmoid fibromatosis (10%, usually arise after intra-abdominal surgery, aggressive and may cause death), fibromas, lipomas, impacted and supernumerary teeth, dental cysts and congenital hypertrophy of retinal pigment epithelium
Radiology images

Images hosted on other servers:

Abdominal CT showing
desmoid fibromatosis
in Gardner syndrome
patient

Case reports
Gross images

Images hosted on other servers:

Innumerable colon polyps from Gardner patient

Desmoid fibromatosis

Board review style question #1
Gardner syndrome is caused by a germline mutation in what gene?

  1. APC
  2. BRAF
  3. MLH1
  4. STK11
Board review style answer #1
A. APC

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Reference: Gardner syndrome
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