The detection of genetic markers of bladder cancer in urine and serum.
OBJECTIVE
To review the most recent publications focusing on the use of genetic markers (DNA, RNA and nucleosides) in urine and serum and provide an opinion on their potential utility for screening, diagnosis and prognosis of urothelial carcinoma.


RESULTS
Several studies have shown the diagnostic utility of urine tests based on improved microsatellite analysis of loss-of-heterozygosity, detection of fibroblast growth factor receptor 3 mutations, detection of single RNA and multiple gene signatures as well as nucleoside profiles. Although of interest, all these studies lack appropriate controls and validation before being considered as serious candidate clinical biomarkers. The presence of fibroblast growth factor receptor 3 mutations in tumors was identified as a hallmark of tumors of low malignant potential. Serum DNA analysis of hypermethylation of a set of genes shows promise as an indicator of cancer progression and mortality. Finally, a case-control study of 775 patients and 397 controls showed that DNA hypomethylation of blood cells combined with smoking habits can provide stratification of cancer risk that may be very helpful in conceiving bladder cancer screening studies.


CONCLUSIONS
The challenge is not so much to identify better markers or methods but rather to commit to implementing them into clinical practice by stimulating and funding the clinical trials required.
Lodde
Michele
M
Department of Urology, Laval University, Hotel Dieu, Quebec, Canada. mlodde@hotmail.com
Fradet
Yves
Y
D002277:Carcinoma / Q000097:blood / Q000175:diagnosis / Q000652:urine*; D004247:DNA / Q000737:chemistry / Q000652:urine*; D005819:Genetic Markers; D006801:Humans; D008403:Mass Screening; D009705:Nucleosides / Q000737:chemistry / Q000652:urine*; D012313:RNA / Q000737:chemistry / Q000652:urine*; D001749:Urinary Bladder Neoplasms / Q000097:blood / Q000175:diagnosis / Q000652:urine*
D005819:Genetic Markers; D009705:Nucleosides; D012313:RNA; D004247:DNA