Genomic deletions in cell lines derived from primitive neuroectodermal tumors of the central nervous system

Cancer Genet Cytogenet. 2005 Jun;159(2):105-13. doi: 10.1016/j.cancergencyto.2004.11.007.

Abstract

Extensive genomic deletions affecting a variety of chromosomes are a common finding in primitive neuroectodermal tumors of the central nervous system (CNS-PNETs), implicating the loss of multiple tumor suppressor genes in the pathogenesis of these tumors. We have used representational difference analysis, microsatellite mapping, and quantitative polymerase chain reaction to identify and verify the presence of genomic deletions on a number of chromosomes in CNS-PNET cell lines. This systematic approach has confirmed the importance of deletions at 10q, 16q, and 17p in PNET pathology and has revealed other regions of deletion not commonly described (e.g., Xq, 1p, 7p, and 13q). These data highlight the prevalence of hemizygous loss in CNS-PNET cells, suggesting that haploinsufficiency affecting multiple tumor suppressor genes may play a fundamental role in CNS-PNET pathogenesis. The identification of specific genes and signaling pathways that are compromised in CNS-PNET cells is crucial for development of more efficacious and less invasive treatments, as are urgently needed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line, Tumor
  • Central Nervous System Neoplasms / genetics*
  • Child, Preschool
  • Chromosome Deletion*
  • Humans
  • Loss of Heterozygosity
  • Male
  • Medulloblastoma / genetics
  • Microsatellite Repeats
  • Neuroectodermal Tumors, Primitive / genetics*
  • Polymerase Chain Reaction / methods