Molecular analysis of astrocytoma associated with Turcot syndrome type 1--case report

Neurol Med Chir (Tokyo). 2004 Mar;44(3):124-8. doi: 10.2176/nmc.44.124.


A 49-year-old man presented with a brain tumor and colon carcinoma. The patient had been treated under diagnoses of hereditary non-polyposis colorectal cancer syndrome and Muir-Torre syndrome. Magnetic resonance imaging revealed a mass lesion in the right frontal lobe with diffuse high intensity on T2-weighted and fluid-attenuated inversion recovery images. A few small lesions were enhanced by gadolinium on the T1-weighted images. Histological examination revealed the brain neoplasm was astrocytoma grade III according to the World Health Organization classification. Molecular genetic analysis detected microsatellite instability and p53 mutation only in the tumor tissue, indicating a failure of the deoxyribonucleic acid mismatch repair system. These results suggest that inactivation of mismatch repair system and p53 is closely associated with the tumorigenesis of this neoplasm. The final diagnosis was Turcot syndrome type 1.

Publication types

  • Case Reports

MeSH terms

  • Astrocytoma / diagnosis
  • Astrocytoma / genetics*
  • Base Pair Mismatch / genetics
  • Brain Neoplasms / diagnosis
  • Brain Neoplasms / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Repair / genetics
  • Genomic Instability
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Mutation
  • Syndrome
  • Tumor Suppressor Protein p53 / genetics


  • Tumor Suppressor Protein p53