Concomitant p53 mutation and MYCN amplification in neuroblastoma

Med Pediatr Oncol. 1997 Sep;29(3):206-7. doi: 10.1002/(sici)1096-911x(199709)29:3<206::aid-mpo7>3.0.co;2-h.

Abstract

The MYCN oncogene is amplified in 20% of childhood neuroblastoma and is associated independently with poor prognosis. Alteration of the p53 tumor supressor gene, in contrast, occurs infrequently in these tumors. In this report, we described a 3-year-old girl with stage IV neuroblastoma. Molecular analysis revealed, both MYCN gene amplification and a point mutation of the p53 tumor supressor gene. To our knowledge, this is the first reported case of neuroblastoma with genetic alterations of both these genes.

Publication types

  • Case Reports

MeSH terms

  • Blotting, Southern
  • Child, Preschool
  • DNA, Neoplasm / analysis
  • Exons / genetics
  • Fatal Outcome
  • Female
  • Gene Amplification*
  • Genes, myc / genetics*
  • Genes, p53 / genetics*
  • Humans
  • Neoplasm Staging
  • Neuroblastoma / genetics*
  • Neuroblastoma / pathology
  • Point Mutation / genetics*
  • Prognosis
  • Sequence Analysis, DNA

Substances

  • DNA, Neoplasm