Turcot syndrome is one of the variations in polyposis syndromes. It is characterized by multiple colonic polyps and an increased risk of colon and primary brain cancers.
Turcot syndrome is a rare disease. Patients typically present in the second decade 3.
Turcot syndrome is characterized by:
It is thought to carry an autosomal recessive inheritance. 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 tumor in this subtype is medulloblastoma.
History and etymology
It is named after Jacques Turcot (1915 - 1977) 5, Canadian surgeon.
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- 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
- 5. [Dr. Jacques Turcot: a life dedicated to medicine]. (1977) Canadian Medical Association journal. 117 (6): 679. Pubmed