Genetic detection of bladder cancer by microsatellite analysis of p16, RB1 and p53 tumor suppressor genes

J Urol. 2001 Jan;165(1):249-52. doi: 10.1097/00005392-200101000-00073.


Purpose: We investigated the incidence of genetic alterations in urine specimens from patients with bladder cancer.

Materials and methods: A total of 28 cytological urine specimens were assessed for microsatellite alternations, and 15 microsatellite markers were located on p53, RB1 and p16 regions. In 15 patients DNA from tumor specimens was also available.

Results: Loss of heterozygosity was detected in 26 of 28 patients (93%) in at least 1 microsatellite marker. Allelic losses were found in 18 patients (64%) for the p16 locus, in 8 (29%) for the RB1 locus and in 17 (61%) for the p53 region. In contrast, no microsatellite alterations were found in the normal group without evidence of bladder cancer. In 11 cases genetic alterations in the cytological urine specimens were not detectable in the corresponding tumor specimen, suggesting heterogeneity of bladder cancer.

Conclusions: The detection of loss of heterozygosity in cytological urine specimens may be a prognostic indicator of early detection of bladder cancer. Our results suggest that microsatellite analysis of urine specimens represents a novel, potentially useful, noninvasive clinical tool to detect bladder cancer.

MeSH terms

  • Aged
  • Case-Control Studies
  • DNA, Neoplasm / genetics
  • Female
  • Genes, Retinoblastoma*
  • Genes, Tumor Suppressor*
  • Genes, p16*
  • Genes, p53*
  • Humans
  • Loss of Heterozygosity
  • Male
  • Microsatellite Repeats
  • Polymerase Chain Reaction
  • Urinary Bladder Neoplasms / diagnosis
  • Urinary Bladder Neoplasms / genetics*
  • Urinary Bladder Neoplasms / urine


  • DNA, Neoplasm