Table of ContentsDefinition / General | Essential Features | Terminology | Epidemiology | Clinical Features | Micro Description | Molecular / Cytogenetics Description | Differential Diagnosis | Additional References
Cite this page: Hereditary mixed polyposis syndrome. PathologyOutlines.com website. http://pathologyoutlines.com/topic/colontumorhereditarymixed.html. Accessed April 25th, 2017.
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
- Rare colonic polyposis syndrome with several possible causative mutations
- Occurs in Ashkenazi Jewish patients and may lead to colorectal carcinoma
- Previously called "mixed familial polyposis"
- Most / all kindreds are of Ashkenazi Jewish heritage (Diagn Histopathol 2015;21:147)
- Mean age of presentation is 41 years
- Increased risk of developing colorectal carcinoma (Nat Genet 2008;40:623)
- No known extra-colonic manifestations
- Polyps of mixed histologic types (tubular adenomas, villous adenomas, flat adenomas, hyperplastic polyps, atypical juvenile polyps)
- Most polyps are adenomas
Molecular / Cytogenetics Description