Cytogenetic and molecular genetic study on granular cell glioblastoma: a case report

Hum Pathol. 2013 Feb;44(2):282-8. doi: 10.1016/j.humpath.2012.07.022. Epub 2012 Oct 9.

Abstract

Granular cell astrocytoma is a rare infiltrative malignant glioma with prominent granular cell change. Granular cell astrocytomas are biologically aggressive compared with conventional infiltrating astrocytomas of similar grades, but their genetic alterations are poorly known. We report a case of granular cell glioblastoma and its genetic and molecular features. Histologically, the tumor not only showed features typical of granular cell astrocytoma but also demonstrated frequent mitoses, pseudopalisading necrosis, and vascular endothelial hyperplasia, compatible with glioblastoma. Array-based comparative genomic hybridization and focused molecular genetic analyses demonstrated gain of chromosome 7; losses of chromosome 1p, 8p, 9p, 10, 13q, and 22q; amplification of epidermal growth factor receptor; and homozygous deletion of CDKN2A as well as MGMT promoter methylation. However, neither isocitrate dehydrogenase 1 mutation nor codeletion of 1p/19q was found. Our results indicate that granular cell glioblastomas, despite having its peculiar granular cell changes, share common molecular genetic features with conventional glioblastoma, especially the classical subtype.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Brain Neoplasms / surgery
  • Brain Neoplasms / therapy
  • Chromosome Disorders*
  • Chromosomes, Human / genetics*
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 10 / genetics
  • Chromosomes, Human, Pair 13 / genetics
  • Chromosomes, Human, Pair 22 / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • Chromosomes, Human, Pair 8 / genetics
  • Chromosomes, Human, Pair 9 / genetics
  • Cyclin-Dependent Kinase Inhibitor p16 / genetics
  • DNA Methylation
  • DNA Modification Methylases / genetics
  • DNA Repair Enzymes / genetics
  • Disease-Free Survival
  • ErbB Receptors / genetics
  • Female
  • Follow-Up Studies
  • Glioblastoma / genetics*
  • Glioblastoma / pathology
  • Glioblastoma / surgery
  • Glioblastoma / therapy
  • Granular Cell Tumor / genetics*
  • Granular Cell Tumor / pathology
  • Granular Cell Tumor / surgery
  • Granular Cell Tumor / therapy
  • Humans
  • Middle Aged
  • Promoter Regions, Genetic
  • Temporal Lobe / pathology*
  • Tumor Suppressor Proteins / genetics

Substances

  • Cyclin-Dependent Kinase Inhibitor p16
  • Tumor Suppressor Proteins
  • DNA Modification Methylases
  • MGMT protein, human
  • ErbB Receptors
  • DNA Repair Enzymes