Turcot syndrome

A rare disease characterized by multiple growths called polyps in the colon (large intestine) together with tumors in the brain. The polyps in the colon tend to become malignant. The brain tumors (gliomas and astrocytomas) in Turcot syndrome are also malignant. There are sometimes also skin abnormalities including cafe-au-lait (coffee-with-milk) spots, multiple lipomas (fatty tumors), and multiple scalp basal cell carcinoma (skin cancers of the scalp). Turcot syndrome is inherited in an autosomal recessive manner with both parents carrying a Turcot gene and a 1 in 4 risk for each of their boys and girls of receiving both parental Turcot genes and suffering from the syndrome. Turcot syndrome is clinically considered a variant of a disease called familial adenomatous polyposis (adenomatous polyposis coli). There is genetic evidence that Turcot syndrome is due to mutations in either the adenomatous polyposis coli (APC) gene or in what are known as the mismatch repair genes MLH1 or PMS2. Turcot, a French Canadian, pronounced his name with a silent terminal "t."

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See under syndrome.

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familial adenomatous polyposis of the colon associated with malignant tumors (gliomas) of the central nervous system.