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.
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...
KeywordsGerm Line Mutation Familial Adenomatous Polyposis Adenomatous Polyposis Coli Microsatellite Instability Adenomatous Polyposis Coli Gene
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