Detection of promoter hypermethylation of tumor suppressor genes in urine from kidney cancer patients

Ann N Y Acad Sci. 2004 Jun;1022:40-3. doi: 10.1196/annals.1318.007.


Kidney cancer is curable by surgical resection and therapy, if detected at an early stage. Using sensitive methylation-specific polymerase chain reaction, we screened matched tumor DNA and preoperative urine DNA from 50 kidney cancer patients, for hypermethylation of a panel of six normally unmethylated tumor suppressor genes: VHL, p16/CDKN2a, p14ARF, APC, RASSF1A, and Timp-3. When compared to the tumor DNA, an identical pattern of gene hypermethylation was found in the matched urine DNA from 44 of 50 patients (88% sensitivity) including 27 of 30 cases of stage I disease. By contrast, hypermethylation was not observed in normal and benign disease controls (100% specificity). We conclude that promoter hypermethylation is a common and early event in kidney tumorigenesis and can be detected in the urine DNA from patients with organ-confined renal cancer of all histologic types.

Publication types

  • Comparative Study

MeSH terms

  • DNA Methylation*
  • DNA, Neoplasm / genetics
  • DNA, Neoplasm / metabolism
  • DNA, Neoplasm / urine*
  • Genes, Tumor Suppressor*
  • Humans
  • Kidney Neoplasms / diagnosis
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / metabolism
  • Kidney Neoplasms / pathology
  • Kidney Neoplasms / urine*
  • Neoplasm Staging
  • Promoter Regions, Genetic*
  • Sensitivity and Specificity


  • DNA, Neoplasm