MUTYH polyposis syndrome

From Libre Pathology
Revision as of 19:47, 24 March 2019 by Michael (talk | contribs)
Jump to navigation Jump to search

MUTYH polyposis syndrome, also MYH polyposis syndrome, is an autosomal recessive syndrome characterized by numerous polyps and an increased risk of colorectal carcinoma.[1]

Colrectal tubular adenoma in MUTYH polyposis. H&E stain.

The MUTYH gene is a mismatch repair gene. Mutations lead to defective base excision repair - specifically, more transversions.[1]

Microscopic

Features:

DDx:

See also

References

  1. 1.0 1.1 1.2 Online 'Mendelian Inheritance in Man' (OMIM) 604933
  2. 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.

External links