Detection of genetic and chromosomal aberrations in medulloblastomas and primitive neuroectodermal tumors with DNA microarrays

Brain Tumor Pathol. 2006 Apr;23(1):41-7. doi: 10.1007/s10014-006-0201-1.


Medulloblastoma (MB) is the most frequent infratentorial malignant brain tumor in children. In contrast, primitive neuroectodermal tumor (PNET) is defined as a supratentorial malignant tumor generated from the cerebral hemisphere. These tumors have considerable histological overlap but have different clinical outcomes including overall survival period, recurrence rate, and chemosensitivity. We investigated the amplification and/or deletion of genes and the chromosomal gain and/or loss in 10 MBs and 3 PNETs with a genomic DNA microarray system. Genes that are frequently amplified in these both these tumors include MSH2, N-myc, AKT3, and EGFR. Amplifications of SNRPN, MYB, and PTEN are observed only in MB. The genes associated with Wnt/APC and Shh/PTCH pathways also have some aberrations. Common chromosomal aberrations include gains at 17q and 7q and losses at 17p. Minor chromosomal losses were also detected at 1p, 8p + q, 11p, 10p + q, 13q, 16q, and Xp + q in MB. SPNETs tend to contain fewer chromosomal and genetic abnormalities than MBs. In conclusion, there are gene expression and chromosomal differences between MBs and SPNETs. These differences may correlate with the prognosis.

MeSH terms

  • Biomarkers, Tumor
  • Cerebellar Neoplasms / genetics*
  • Cerebellar Neoplasms / pathology*
  • Cerebellum / pathology
  • Child
  • Child, Preschool
  • Chromosome Aberrations*
  • DNA, Neoplasm / genetics*
  • DNA, Neoplasm / isolation & purification
  • Female
  • Humans
  • In Situ Hybridization
  • Infant
  • Male
  • Medulloblastoma / genetics*
  • Medulloblastoma / pathology*
  • Microarray Analysis
  • Neuroectodermal Tumors, Primitive / genetics*
  • Neuroectodermal Tumors, Primitive / pathology*
  • Young Adult


  • Biomarkers, Tumor
  • DNA, Neoplasm