BACKGROUND: Turcot syndrome (TS) or the glioma-polyposis syndrome, is a rare, 
heritable disorder thought by some authors to be a variant of familial 
adenomatous polyposis (FAP). It is characterized by central nervous system (CNS) 
neoplasms and gastrointestinal polyposis.
METHODS: We present a case report of a patient who developed a medulloblastoma 
at age 5 years. Ten years later, she developed adenocarcinoma of the colon. 
Seven months after resection of this Dukes' C2 adenocarcinoma, she 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 revealed the presence of chromosomal instability 
in both tumors. This unusual case of two primary CNS neoplasms in a patient with 
TS is presented with a review of the literature.
CONCLUSIONS: The implications of the cytogenetic analysis are discussed in 
conjunction with the present knowledge of the molecular biology of TS.