Retinoblastoma gene mutations in primary human bladder cancer

H. Miyamoto, T. Shuin, S. Torigoe, Y. Iwasaki, Y. Kubota

Research output: Contribution to journalArticle

Abstract

Inactivation of the retinoblastoma (RB) gene is known to be implicated in the pathogenesis of several types of human cancers. Since structural alterations of the RB gene have not been well examined in human bladder cancer, we looked for mutations in the entire coding region of this gene using polymerase chain reaction (PCR) and single-strand conformational polymorphism analysis of RNA. We also examined allelic loss of the RB gene using PCR-based restriction fragment length polymorphism analysis. Of 30 samples obtained from patients with bladder cancer, eight (27%) were found to have RB gene mutations. DNA sequencing of the PCR products revealed five cases with single point mutations and three cases with small deletions. These mutations included one (10%) of ten low-grade (grade 1) tumours, four (50%) of eight intermediate-grade (grade 2) tumours and three (25%) of 12 high-grade (grade 3) tumours. Likewise, mutations were found in four (21%) of 19 superficial (pTa and pT1) tumours and four (36%) of 11 invasive (pT2 or greater) tumours. In 15 informative cases, loss of heterozygosity at the RB locus was shown in five cases (33%), three cases with RB mutations and two without them. These results suggest that RB gene mutations are involved in low-grade and superficial bladder cancers as well as in high-grade and invasive cancers.

Original languageEnglish (US)
Pages (from-to)831-835
Number of pages5
JournalBritish journal of cancer
Volume71
Issue number4
DOIs
StatePublished - Apr 1995

Keywords

  • Bladder cancer
  • Loss of heterozygosity
  • Mutation
  • Retinoblastoma gene

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

Fingerprint Dive into the research topics of 'Retinoblastoma gene mutations in primary human bladder cancer'. Together they form a unique fingerprint.

  • Cite this

    Miyamoto, H., Shuin, T., Torigoe, S., Iwasaki, Y., & Kubota, Y. (1995). Retinoblastoma gene mutations in primary human bladder cancer. British journal of cancer, 71(4), 831-835. https://doi.org/10.1038/bjc.1995.160