MEDULLOBLASTOMA AND GLIOBLASTOMA-MULTIFORME IN A PATIENT WITH TURCOT-SYNDROME - A CASE-REPORT

BACKGROUND Turcot syndrome (TS) or the glioma-polyposis syndrome, is a rare, heritable disorder thought by some authors to be a variant of f amilial adenomatous polyposis (FAP). It is characterized by central ne rvous system (CNS) neoplasms and gastrointestinal polyposis. METHODS W e present a case report of a patient who developed a medulloblastoma a t age 5 years. Ten years later, she developed adenocarcinoma of the co lon. Seven months after resection of this Dukes' C2 adenocarcinoma, sh e presented with a second primary CNS tumor, a glioblastoma multiforme . The patient's colonic adenocarcinoma and glioblastoma were evaluated histologically and cytogenetically. RESULTS Cytogenetic analysis reve aled the presence of chromosomal instability in both tumors. This unus ual case of two primary CNS neoplasms in a patient with TS is presente d with a review of the literature. CONCLUSIONS The implications of the cytogenetic analysis are discussed in conjunction with the present kn owledge of the molecular biology of TS. (C) 1998 by Elsevier Science I nc.