Turcot syndrome is a polyposis syndrome. It is characterized by multiple colonic polyps and an increased risk of colon cancer and primary brain cancers.
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Epidemiology
Turcot syndrome is a rare disease. Patients typically present in the second decade 3.
Pathology
Turcot syndrome is characterized by:
CNS tumors: most commonly glioblastoma or medulloblastoma
Genetics
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 cancer by the age of 40. The common intracranial tumor in this subtype is medulloblastoma.
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 glioblastomas.
History and etymology
It is named after Jacques Turcot (1915-1977) 5, a Canadian surgeon.
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