The Turcot syndrome is one of the variations in polyposis syndromes, characterised by :
- intestinal polyposis
- CNS tumours - most commonly :
It is thought to carry an autosomal recessive inheritance. Patients typically present in the 2nd decade 3.
Two thirds of patients have mutations in the APC gene - the same genetic defect as in familial adenomatous polyposis (FAP). These patients have multiple colonic adenomas, and virtually all develop colorectal carcinoma by the age of 40. The common intracranial tumour in this subtype is medulloblastomas.
The other third have mutations in the HNPCC genes. Colonic malignancy is not as common in this type, but tends to develop at a younger age. Most develop GBMs.
It is named after Jacques Turcot : Canadian surgeon
- 1. Robbins SL, Kumar V, Abbas AK et-al. Robbins and Cotran pathologic basis of disease. W.B. Saunders Company. (2010) ISBN:1416031219. Read it at Google Books - Find it at Amazon
- 2. Radin DR, Fortgang KC, Zee CS et-al. Turcot syndrome: a case with spinal cord and colonic neoplasms. AJR Am J Roentgenol. 1984;142 (3): 475-6. AJR Am J Roentgenol (citation) - Pubmed citation
- 3. Harned RK, Buck JL, Olmsted WW et-al. Extracolonic manifestations of the familial adenomatous polyposis syndromes. AJR Am J Roentgenol. 1991;156 (3): 481-5. AJR Am J Roentgenol (abstract) - Pubmed citation
- 4. Koontz NA, Hess CP. AJR teaching file: brain tumor in a patient with familial adenomatous polyposis. AJR Am J Roentgenol. 2010;195 (3): S25-8. doi:10.2214/AJR.07.7128 - Pubmed citation
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|