48,466
edits
Difference between revisions of "MUTYH polyposis syndrome"
Jump to navigation
Jump to search
no edit summary
m (moved MYH polyposis syndrome to MUTYH polyposis syndrome: name of gene) |
|||
| (16 intermediate revisions by the same user not shown) | |||
| Line 1: | Line 1: | ||
''' | [[Image:Tubular adenoma in MUTYH polyposis -- low mag.jpg|thumb|[[Colorectal 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> | |||
The ''MUTYH gene'' is a mismatch repair gene. Mutations lead to defective base excision repair - specifically more transversions.<ref name=omim604933/> | The ''MUTYH gene'' is a mismatch repair gene. Mutations lead to defective base excision repair - specifically, more transversions.<ref name=omim604933/> | ||
==Microscopic== | |||
Features: | |||
*Commonly manifest as a mix of:<ref name=pmid19013464>{{Cite journal | last1 = Boparai | first1 = KS. | last2 = Dekker | first2 = E. | last3 = Van Eeden | first3 = S. | last4 = Polak | first4 = MM. | last5 = Bartelsman | first5 = JF. | last6 = Mathus-Vliegen | first6 = EM. | last7 = Keller | first7 = JJ. | last8 = van Noesel | first8 = CJ. | title = Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. | journal = Gastroenterology | volume = 135 | issue = 6 | pages = 2014-8 | month = Dec | year = 2008 | doi = 10.1053/j.gastro.2008.09.020 | PMID = 19013464 }}</ref> | |||
**[[Hyperplastic polyp]]. | |||
**[[Sessile serrated adenoma]]. | |||
**[[Adenomatous polyps]].<ref name=omim604933>{{OMIM|604933}}</ref> | |||
DDx: | |||
*[[Familial adenomatous polyposis]]. | |||
*[[Serrated polyposis syndrome]]. | |||
Note: | |||
*The histomorphology of the polyps in the syndrome are not distinctive from sporadic ones. | |||
==See also== | ==See also== | ||
*[[Colorectal carcinoma]]. | |||
*[[Familial adenomatous polyposis]]. | *[[Familial adenomatous polyposis]]. | ||
*[[Hyperplastic polyposis syndrome]]. | |||
*[[Intestinal polyposis]]. | |||
==References== | ==References== | ||
| Line 10: | Line 28: | ||
==External links== | ==External links== | ||
*[http://journal.nzma.org.nz/journal/121-1287/3419/ | *[http://journal.nzma.org.nz/journal/121-1287/3419/ MYH-associated polyposis—a new familial colorectal cancer syndrome without a family history (nzma.org.nz)]. | ||
MYH-associated polyposis—a new familial colorectal cancer syndrome without a family history (nzma.org.nz)]. | |||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category:Gastrointestinal pathology]] | |||