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Colon tumor

Familial polyposis syndromes

Turcot's syndrome

Reviewers: Charanjeet Singh, M.D. (see Reviewers page)
Revised: 15 October 2011, last major update September 2011
Copyright: (c) 2003-2011, PathologyOutlines.com, Inc.

Clinical features

● Pronounced with silent second t (Turcot was French Canadian)
● Also called mismatch repair cancer syndrome (OMIM 276300)
● Rare; autosomal recessive variant of familial adenomatous polyposis
● CNS tumors (gliomas or glioblastomas) and later familial adenomatous polyposis
● May be 2 types - (a) gliomas plus nonpolyposis adenomas with mismatch repair gene mutations and (b) medulloblastomas plus adenomatous polyposis with APC mutations

Case reports

● 16 year old boy with colonic adenocarcinoma and astrocytoma (Neurol Med Chir (Tokyo) 1989;29:606)
● 49 year old man with colon carcinoma and astrocytoma (Neurol Med Chir (Tokyo) 2004;44:124)

Molecular description

● MLH1, MSH2 and PMS2 germline mutations
● Also APC (N Engl J Med 1995;332:839)

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