Turcot Syndrome: A Case Report in an Unsuspected Setting

Abstract

Turcot syndrome (TS) is a rare hereditary disorder named after Dr. Jacques Turcot who first reported it in 1959. The primary clinical feature of TS is the concurrent presence of multiple colorectal adenomas or carcinomas and primary tumors of the central nervous system. The mode of transmission for TS may be either autosomal dominant or autosomal recessive. To date, TS has been subdivided clinically and genetically into two subtypes. TS type 1 has mutations in one of the mismatch repair (MMR) genes (MSH2, MSH6, MLH1, PMS1, and PMS2) that are usually found in hereditary nonpolyposis colorectal cancer (HNPCC) and is associated with glioblastoma. TS type 2 has a germline mutation of the adenomatous polyposis coli (APC) gene that is usually found in familial adenomatous polyposis and is associated with anaplastic astrocytoma, ependymoma, or medulloblastoma. We report the case of a TS type 1 female patient who had survived exceptionally long with glioblastoma multiforme (GBM) and who had experienced an unusually long gap between the initial diagnosis of GBM and colon cancer.