A TP53 mutation detected in cells established from an osteosarcoma, but not in the retinoblastoma of a patient with bilateral retinoblastoma and multiple primary osteosarcomas

Cancer Genet Cytogenet. 1992 Dec;64(2):178-82. doi: 10.1016/0165-4608(92)90352-9.


A patient with bilateral retinoblastoma and subsequent multiple primary osteosarcomas has been described previously. Osteosarcoma cell lines established from this patient were shown to express a shortened RB1 mRNA transcript and no detectable normal Rb protein. We now show that the osteosarcoma cell lines have lost one TP53 allele and contain a mutation in exon 8 codon 286 [GAA to AAA (Glu to Lys)] in the remaining allele. Consequently, the osteosarcoma cell lines have no normal Rb protein and no normal p53 protein. Neither constitutional DNA nor DNA extracted from a retinoblastoma of the left eye of the patient contained the TP53 mutation, suggesting that the TP53 mutation in the osteosarcoma cells may represent a tumor-promoting mutation, which confers a selective growth advantage. If both RB1 and TP53 are involved in the initiation of osteosarcoma, the mechanisms for development of the retinoblastoma and osteosarcoma tumors are different.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • DNA, Neoplasm / genetics
  • Electrophoresis / methods
  • Eye Neoplasms / genetics*
  • Genes, Tumor Suppressor
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Neoplasms, Multiple Primary / genetics*
  • Nerve Tissue Proteins / genetics*
  • Osteosarcoma / genetics*
  • Polymerase Chain Reaction
  • Retinoblastoma / genetics*
  • Tumor Cells, Cultured
  • Tumor Suppressor Protein p53


  • DNA, Neoplasm
  • Neoplasm Proteins
  • Nerve Tissue Proteins
  • Tumor Suppressor Protein p53