MALIGNANT EPENDYMOMAS IN A PATIENT WITH TURCOTS-SYNDROME - CASE-REPORT AND MANAGEMENT GUIDELINES

BACKGROUND Turcot's Syndrome is the association of multiple adenomatou s polyps of the colon with a primary tumor of the central nervous syst em, We present the first reported case of Turcot's Syndrome in a patie nt with malignant ependymomas, Recent advances in the elucidation of t he genetic basis for the hereditary forms of colon cancer have provide d a clearer understanding of the etiology of Turcot's Syndrome, This n ew information is relevant to the neurosurgical community and provides updated guidelines in the diagnosis and management of patients with t his complex disease process. RESULTS Turcot's Syndrome is related to t wo distinct genetic errors. The first involves a germ-line mutation in the adenomatous polyposis coli (APC) gene, which is postulated to act as a tumor suppressor gene, The second is a germ-line defect in one o f a group of genes responsible for DNA nucleotide mismatch repair. CON CLUSION The elucidation of the gene defects responsible for the heredi tary forms of colon cancer has provided a clearer understanding of the molecular basis of Turcot's Syndrome, Patients with hereditary forms of colon cancer and neurologic symptoms require immediate and thorough investigation because of their significantly increased risk of develo ping CNS tumors, Previously healthy patients diagnosed with a CNS tumo r with a family history of adenomatous polyposis coli should undergo s creening and surveillance colonoscopy as the CNS lesion may precede co lonic symptoms. CNS screening guidelines for asymptomatic patients wit h adenomatous polyposis coli requires further risk analysis studies. A ll patients diagnosed with Turcot's Syndrome should be tested for the gene defect, including the CNS tumor tissue to provide further data on the genetic relationship between Turcot's Syndrome and the hereditary forms of colon cancer. (C) 1998 by Elsevier Science Inc.