Difference between revisions of "MUTYH polyposis syndrome"
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''' | [[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]] | |||
Latest revision as of 01:57, 25 March 2019
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.