Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Turcot Syndrome

  • Paola Izzo
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_6067-2

Definition

Turcot syndrome (TS) is a rare inherited neoplastic disease characterized by the association of primary malignant neuroepithelial tumors of the central nervous system and colon cancers and/or multiple colorectal adenomas.

Characteristics

Clinical Criteria

The 130 or so Turcot syndrome (TS) cases described to date include various histopathologic types of brain tumors, e.g., glioma, medulloblastoma, and astrocytoma, associated with a broad spectrum of colorectal findings, from a single adenoma to typical adenomatous polyposis. Usually, polyps are fewer in number than in familial adenomatous polyposis (FAP [APC gene in familial adenomatous polyposis]) but are larger in size, and multiple adenomas or colorectal cancers occur at an early age and undergo an earlier malignant transformation than in FAP or in hereditary nonpolyposis colorectal cancer (HNPCC).

The clinical definition and the mode of inheritance of Turcot syndrome are controversial; some authors propose that TS is an...

Keywords

Germ Line Mutation Familial Adenomatous Polyposis Adenomatous Polyposis Coli Microsatellite Instability Adenomatous Polyposis Coli Gene 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Agostini M, Tibiletti MG, Lucci-Cordisco E, et al. (2005) Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. American Journal of Gastroenterology 100(8):1886–1891CrossRefPubMedGoogle Scholar
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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Department of Molecular Medicine and Medical Biotechnology, School of Medicine and SurgeryUniversity of Naples Federico IINaplesItaly