Abstract

Turcot's syndrome, clinically characterized by the coincident occurrence of primary tumors of the colon and the central nervous system (CNS) typically a glioblastoma or a medulloblastoma, can genetically be divided into two syndromes: familial adenomatous polyposis (FAP) and hereditary nonpolyposis colon carcinoma (HNPCC). We previously have reported the first case of Turcot's syndrome in Korea associated with cerebral oligodendroglioma. We also have performed genetic analyses of this patient and her family to determine the genetic variants, including mutations in APC gene and mismatch repair gene, in Turcot's syndrome. Recently, germ-line mutation in the base- excision-repair gene MYH was identified to cause a novel autosomal recessive form of FAP. The discovery of MYH polyposis suggests that patients with FAP phenotype, and with a negative APC gene will need genetic testing for MYH mutation. Interestingly, a striking evidence for specific MYH mutations within different ethnic groups has been noted. Therefore, we have analyzed an APC-negative patient with Turcot's syndrome for mutation in MYH gene to assess its possible prevalence and ethnic specificity in Korea. (Intestinal Research 2004;2:113-119)

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