Turcot syndrome C18.9

Turcot, 1959

Rare genetic disorder in which polyps in the bowel and glioblastomas/medulloblastomas of the brain occur in the context of familial adenomatous polyposis (FAP).

Mutations in the tumour suppressor gene APC (as in familial adenomatous polyposis) and in the genes hMLH1 and hPMS2 (as in hereditary non-polyposis colorectal carcinoma, HNPCC), which code for DNA mismatch repair proteins, have been discovered as the cause of the disease.

Intestinal polyps are precanceroses of colorectal cancer. Because of the similarity of the disease patterns, treatment is comparable to the therapeutic approach used in Familial Adenomatous Polyposis.

1. Turcot, J et al (1959) Malignant tumors of the central nervous system associated with familial polyposis of the colon: report of two cases. Dis Colon Rectum 2: 465-468.
2. Becker, HD et al (2002) Surgical Oncology. Thieme, Stuttgart 405-406.