Mutation of p53 with loss of heterozygosity in the osteosarcomatous component of a dedifferentiated chondrosarcoma

Virchows Arch. 2000 May;436(5):494-7. doi: 10.1007/s004280050478.

Abstract

We investigated a dedifferentiated chondrosarcoma of a 61-year-old woman with an osteosarcomatous high-grade component for p53 alteration. The low-grade cartilaginous and the high-grade osteosarcomatous components of the tumor were macrodissected and evaluated separately by immunohistochemistry and molecular biology. We used PCR-SSCP analysis and direct sequencing to screen exons 4-8 for p53 mutations. The p53 intron 1-polymorphism was investigated for loss of heterozygosity. A functionally relevant p53 missense mutation in codon 193 of exon 6 (A-to-T transversion) with loss of wild-type allele was detected only in the dedifferentiated component. Using the monoclonal antibody DO-1, immunohistochemistry failed to show p53 overexpression. This evidence of p53 mutation may be regarded as at least a co-factor that "switched" the preexisting low-grade conventional chondrosarcoma to a highly malignant dedifferentiated tumor.

Publication types

  • Case Reports

MeSH terms

  • Chemotherapy, Adjuvant
  • Chondrosarcoma / drug therapy
  • Chondrosarcoma / genetics*
  • Chondrosarcoma / pathology
  • Chondrosarcoma / surgery
  • DNA, Neoplasm / analysis
  • Female
  • Femoral Neoplasms / drug therapy
  • Femoral Neoplasms / genetics*
  • Femoral Neoplasms / pathology
  • Femoral Neoplasms / surgery
  • Genes, p53 / genetics*
  • Humans
  • Loss of Heterozygosity*
  • Middle Aged
  • Neoplasms, Multiple Primary / drug therapy
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / pathology
  • Neoplasms, Multiple Primary / surgery
  • Osteosarcoma / drug therapy
  • Osteosarcoma / genetics*
  • Osteosarcoma / pathology
  • Osteosarcoma / surgery
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational

Substances

  • DNA, Neoplasm