Colon tumor
Familial polyposis syndromes
Hereditary mixed polyposis syndrome

Author: Raul S. Gonzalez, M.D. (see Authors page)

Revised: 14 July 2016, last major update July 2016

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PubMed Search: Hereditary mixed polyposis syndrome

Cite this page: Hereditary mixed polyposis syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/colontumorhereditarymixed.html. Accessed December 7th, 2016.
Definition / General
  • Rare, autosomal dominant syndrome causing patients to develop numerous types of polyps throughout the colon (OMIM #01228)
  • Patients generally develop 15 or fewer polyps
Essential Features
  • Rare colonic polyposis syndrome with several possible causative mutations
  • Occurs in Ashkenazi Jewish patients and may lead to colorectal carcinoma
Terminology
  • Previously called "mixed familial polyposis"
Epidemiology
Clinical Features
  • Mean age of presentation is 41 years
  • Increased risk of developing colorectal carcinoma (Nat Genet 2008;40:623)
  • No known extra-colonic manifestations
Micro Description
  • Polyps of mixed histologic types (tubular adenomas, villous adenomas, flat adenomas, hyperplastic polyps, atypical juvenile polyps)
  • Most polyps are adenomas
Molecular / Cytogenetics Description
Differential Diagnosis