Multiple chromosomal monosomies are characteristic of giant cell ependymoma

Hum Pathol. 2011 Dec;42(12):2042-6. doi: 10.1016/j.humpath.2011.02.012. Epub 2011 Jun 17.


Giant cell ependymoma, a rare ependymoma subtype, was recently recognized as a separate diagnostic entity with variations both in malignant potential and course of disease. We analyzed the first supratentorial giant cell ependymoma using G-band karyotyping, DNA ploidy analysis, and array comparative genomic hybridization. The tumor was hypodiploid, and the karyotype showed multiple monosomies. This novel cytogenetic pattern seems specific for giant cell ependymoma as the only previous cytogenetic analysis of a giant cell ependymoma found similar monosomies. We were also able to analyze cytogenetically the subsequent recurrent tumor, phenotypically an anaplastic ependymoma, allowing a first insight into the genetic events involved in disease progression.

Publication types

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

MeSH terms

  • Adult
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / pathology
  • Brain Neoplasms / surgery
  • Chromosome Banding
  • Comparative Genomic Hybridization / methods*
  • Disease Progression
  • Ependymoma / genetics*
  • Ependymoma / pathology
  • Ependymoma / surgery
  • Giant Cells / pathology*
  • Humans
  • Karyotyping
  • Male
  • Monosomy / genetics*
  • Neoplasm Recurrence, Local / genetics
  • Neoplasm Recurrence, Local / pathology
  • Neoplasm Recurrence, Local / surgery
  • Paraffin Embedding
  • Phenotype
  • Radiotherapy, Adjuvant
  • Temporal Lobe*