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:

DDx:

Note:

  • The histomorphology of the polyps in the syndrome are not distinctive from sporadic ones.

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