Home   Chapter Home   Jobs   Conferences   Fellowships   Books



Advertisement

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)


This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.

All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at copyrightPathOut@gmail.com with any questions (click here for other contact information).