What is the role of molecular and genetic markers in the diagnosis of bladder cancer?

Updated: Feb 23, 2021
  • Author: Kara N Babaian, MD, FACS; Chief Editor: Bradley Fields Schwartz, DO, FACS  more...
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Newer molecular and genetic markers, including detection of mutations in genes such as RAS, FGFR3,PIK3CA, and TP53, and methylation pathways in urinary sediment, [70] may help in the early detection and prediction of urothelial carcinoma. At this time, however, no urinary assay has been shown to effectively replace urine cytology and cystoscopy, with or without biopsy, for the diagnosis of bladder cancer. Nevertheless, marker assays may be useful adjuncts to urine cytology and cystoscopy. 

However due to high cost and low specificity, use of urine-based tumor markers is not recommended by the AUA or the EAU as part of the microhematuria workup. [64]  NCCN guidelines state that urinary markers may be useful during surveillance of bladder cancer, but whether these markers are helpful in the detection and management of non–muscle-invasive bladder tumors remains unclear. [1]  

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