Turcot syndrome: a synchronous clinical presentation of glioblastoma multiforme and adenocarcinoma of the colon

Abstract

Turcot syndrome (TS) is a rare hereditary disorder clinically characterized by the occurrence of primary tumors of the colon and the central nervous system (CNS). Here we present the case of an 11-year-old boy with a synchronous clinical presentation of both glioblastoma multiforme (GBM) and colonic adenocarcinoma. A molecular genetic study revealed microsatellite instability in the DNA mismatch repair (MMR) gene. This patient ultimately survived for 13 months after clinical presentation. Based on this case study, the synchronous presentation of glioblastoma multiforme and adenocarcinoma of the colon might suggest a shorter survival rate for patients with Turcot syndrome. A literature review complements this paper.

Figure 1

T1 axial MRI brain depicting left frontal tumor with rim enhancement associated with midline shift, (a) and after resection MRI brain demonstrates no residual tumor and a resolved mass effect (b). Photograph of the patient skin café-au-lait spots (c). (d) Histopathology shows high mitotic index and multinucleated giant cells representing GBM features. Hematoxylin and eosin stain 5 400.

Figure 2

Colon fiberscopy demonstrates ulcerative adenoma (arrow; (a), (b)). Histopathology slides reveal the adenoma, hematoxylin and eosin stain 5 100. (c) and carcinoma invasion of the colon muscular layer, hematoxylin and eosin stain 5 200 (d).

Figure 3

MRI brain shows the dissemination of the GBM in the left hemisphere ((a) (b)). (c) MRI pelvis (sagittal) demonstrates extensive colorectal adenocarcinoma recurrence.