CGH evaluation of two de novo synchronous tumors in a child with a germline p53 mutation

Pediatr Blood Cancer. 2006 Dec;47(7):949-54. doi: 10.1002/pbc.20603.

Abstract

We report the case of a child who developed two de novo synchronous tumors: an osteosarcoma and an embryonal rhabdomyosarcoma. The patient was determined to be a de novo carrier of a P53 germline mutation. Comparative genomic hybridization (CGH) analysis revealed that each of the neoplasms was characterized by a specific set of chromosomal imbalances and high-level amplification (HLA) regions. Our CGH findings provide evidence that cancer development is a cellular/organ specific event.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Femoral Neoplasms / genetics*
  • Genes, p16
  • Genes, p53*
  • Germ-Line Mutation*
  • Humans
  • Male
  • Neoplasms, Multiple Primary / genetics*
  • Nucleic Acid Hybridization / methods*
  • Osteosarcoma / genetics*
  • Retroperitoneal Neoplasms / genetics*
  • Rhabdomyosarcoma / genetics*
  • Rhabdomyosarcoma / secondary
  • Testicular Neoplasms / pathology