Turcot’s syndrome (review of literature and case report)

Abstract

Turcot’s syndrome in a 14-year-old girl is described and related literature is reviewed, presenting the history of the problem and modern views on the nature of this syndrome. Combination of cerebral glioblastoma and rectal cancer in the reported case with Turcot’s syndrome is related to hereditary rectal cancer, not associated with polyposis. The detected morphological features confirm this relationship. Detection of the multiple synchronous growth of the tumor, presence of tumor sites with the structure of mucous adenocarcinoma, and pronounced infiltration of tumor tissue by cytotoxic CD8-positive lymphocytes indicate the mutation hereditary mechanism of oncogenesis. We confirmed our hypothesis by gene immunohistochemial analysis, which showed loss of MSH6 protein expression and retained expression of MHL1 and MSH2. Up to the present time mutations in MHLI, MSH2, and PMS2 genes were detected in patients with Turcot’s syndrome, Lost expression of MSH6 gene product in tumor cells and the corresponding mutation of MSH6 gene underlying the syndrome development are described for the first time.