Mutation analysis of the p53 tumor suppressor gene using paraffin-embedded specimens of human transitional cell carcinomas by the direct sequencing method

Tokai J Exp Clin Med. 2000 Jun;25(2):69-77.


A very small quantity of DNA was extracted from paraffin sections of 25 bladder and 2 ureteral cancer cases, and exons 5-8 of the p53 gene were amplified by the polymerase chain reaction. Mutations were detected by direct sequencing, and their relationships to clinicopathological factors were assessed. Point mutations of the p53 gene were observed in 2 of 27 specimens of transitional cell carcinoma. One was a novel nonsense mutation. The prognosis of patients with p53 gene mutations was poorer than those of patients without mutations. Analysis of the data showed that assessment of the potential malignancy of bladder cancer, combined with a conventional pathological diagnosis, allows a more precise prognosis. Direct sequencing of tissue specimens enables swift prognostic evaluation and prompt decisions concerning treatment.

Publication types

  • Evaluation Study

MeSH terms

  • Adult
  • Aged
  • Carcinoma, Transitional Cell / genetics*
  • Carcinoma, Transitional Cell / pathology
  • DNA Mutational Analysis / methods*
  • DNA, Neoplasm / genetics
  • DNA, Neoplasm / isolation & purification
  • Female
  • Genes, p53*
  • Humans
  • Male
  • Middle Aged
  • Neoplasm Recurrence, Local / genetics
  • Paraffin Embedding
  • Point Mutation
  • Polymerase Chain Reaction
  • Ureteral Neoplasms / genetics*
  • Ureteral Neoplasms / pathology
  • Urinary Bladder Neoplasms / genetics*
  • Urinary Bladder Neoplasms / pathology


  • DNA, Neoplasm