Turcot syndrome

Last revised by Patrick O'Shea on 13 Jul 2022

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

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.

It is named after Jacques Turcot (1915-1977) 5, Canadian surgeon. 


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