MUTYH polyposis syndrome
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MUTYH polyposis syndrome, also MYH polyposis syndrome, is an autosomal recessive syndrome characterized by numerous polyps and an increased risk of colorectal carcinoma.[1]
The MUTYH gene is a mismatch repair gene. Mutations lead to defective base excision repair - specifically, more transversions.[1]
Microscopic
Features:
- Commonly manifest as a mix of:[2]
DDx:
Note:
- The histomorphology of the polyps in the syndrome are not distinctive from sporadic ones.
See also
- Colorectal carcinoma.
- Familial adenomatous polyposis.
- Hyperplastic polyposis syndrome.
- Intestinal polyposis.
References
- ↑ 1.0 1.1 1.2 Online 'Mendelian Inheritance in Man' (OMIM) 604933
- ↑ Boparai, KS.; Dekker, E.; Van Eeden, S.; Polak, MM.; Bartelsman, JF.; Mathus-Vliegen, EM.; Keller, JJ.; van Noesel, CJ. (Dec 2008). "Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis.". Gastroenterology 135 (6): 2014-8. doi:10.1053/j.gastro.2008.09.020. PMID 19013464.