Malignant tumors of the central nervous system associated with familial polyposis of the colon

Turcot syndrome: a case with spinal cord and colonic neoplasms

“…About two dozen patients with colonic polyps and primary CNS malignancy have been reported [1][2][3][4][5] …”

Drastic genetic instability of tumors and normal tissues in Turcot syndrome

“…It has been suggested that there are three types of Turcot syndrome (Turcot et al, 1959;Itoh and Ohsato, 1985): an autosomal dominant type associated with familial adenomatous polyposis (FAP), an autosomal dominant type associated with hereditary nonpolyposis colorectal cancer (HNPCC), and a recessively inherited type. Although about 10 dominantly inherited cases with germline mutation of APC gene Hamilton et al, 1995) and two dominant cases with germline mutation of DNA mismatch repair genes , have been reported as Turcot, the causative gene of recessive cases has not been identi®ed, and the mechanism of carcinogenesis in every type of Turcot syndrome is still unclear.…”

Molecular alterations in a patient with Turcot's syndrome

“…Turcot's syndrome, the association of intestinal polyposis with neuroepithelial brain tumours such as glioma, glioblastoma and medulloblastoma, was first described by Crail in 1949 (Crail, 1949), and later by Turcot et al (1959). So far, some 30 cases have been reported in the literature, but there is no information on molecular alterations involved in the development and progression of the disease.…”