Abstract

Turcot's syndrome (TS) is a genetic disease characterized by primary brain tumor, colon cancer and/or multiple colorectal polyps. The mode of genetic transmission of the syndrome still remains unclear because TS is a rare disorder. The majority of central nervous system (CNS) neoplasms associated with TS are glioma, glioblstoma multiformes and medulloblastoma. Other types of CNS tumors related to TS have been noted in a few case reports, and there are only two reports of oligodendroglioma associated with TS. To the authors' knowledge, this is the first case of a patient with TS who had a cerebral oligodendroglioma and a colorectal adenocarcinoma in Korea. Therefore, the authors performed genetic analysis of this patient and her family to determine the genetic variants, including mutations in APC gene and mismatch repair gene, in Turcot's syndrome. (Intestinal Research 2003;2:192-196)

• Keywords: Turcot's syndrome, Colorectal cancer, Oligodendroglioma, Mismatch repair gene, APC gene