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Colon tumor

Familial polyposis syndromes

Muir-Torre syndrome

Reviewers: Charanjeet Singh, M.D. (see Reviewers page)
Revised: 18 October 2011, last major update September 2011
Copyright: (c) 2003-2011, PathologyOutlines.com, Inc.

Clinical features

● Also called Torre-Muir syndrome
● Clinical variant of Lynch syndrome
● Rare autosomal dominant disorder with < 100 adenomas, usually in proximal colon
● Multiple colorectal tumors associated with multiple sebaceous tumors (mostly cystic tumors, including carcinomas), keratoacanthomas and basal cell carcinoma
● Rare case reports of hepatocellular carcinoma in non-cirrhotic background (Fam Cancer 2011 May 26)
● 15% of women develop endometrial cancer

Molecular descripton

● Mutations in MSH2, MLH1 and MSH6

Negative stains

● MSH2 and MSH6 in colonic polyps (Arch Dermatol 2006;142:1039), CK15 and MSH2 in sebaceous neoplasms (J Cutan Pathol 2006;33:634, Dermatol Online J 2006;12:4, Am J Clin Dermatol 2007;8:315)

Additional references

Hum Pathol 1995;26:422, eMedicine, OMIM 158320

End of Colon tumor > Familial polyposis syndromes > Muir-Torre syndrome

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