The Molecular Basis of Turcot's Syndrome

In 1959, Turcot and colleagues described two teenaged siblings with numerous adenomatous polyps of the colorectum in whom malignant tumors of the central nervous system developed. 1 One patient had a medulloblastoma involving the spinal cord (the brain was not examined at autopsy) and adenocarcinomas of the sigmoid colon and rectum. His sister had a cerebral glioblastoma multiforme and a pituitary adenoma. Ten years earlier, Crail had described a patient with adenomatous polyposis, medulloblastoma of the brain stem, and papillary carcinoma of the thyroid gland, 2 but the eponym “Turcot's syndrome” denotes the syndrome of colorectal polyposis and a primary tumor of . . .