Difference between revisions of "MUTYH polyposis syndrome"

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[[Image:Tubular adenoma in MUTYH polyposis -- low mag.jpg|thumb|Colrectal [[tubular adenoma]] in MUTYH polyposis. [[H&E stain]].]]
'''MUTYH polyposis syndrome''', also '''MYH polyposis syndrome''', is an autosomal recessive syndrome characterized by numerous polyps and an increased risk of [[colorectal carcinoma]].<ref name=omim604933>{{OMIM|604933}}</ref>
'''MUTYH polyposis syndrome''', also '''MYH polyposis syndrome''', is an autosomal recessive syndrome characterized by numerous polyps and an increased risk of [[colorectal carcinoma]].<ref name=omim604933>{{OMIM|604933}}</ref>



Revision as of 19:47, 24 March 2019

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

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:

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