What is the role of genetic analysis in the diagnosis of bladder cancer?

Updated: Nov 01, 2018
  • Author: Gary David Steinberg, MD, FACS; Chief Editor: Bradley Fields Schwartz, DO, FACS  more...
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The study of genetic aberrations commonly associated with urothelial carcinoma provides a more objective assessment for diagnosing and detecting recurrent disease. Homozygous loss of band 9p21, the site for the tumor suppressor gene P16, is a known early genetic event in the development of papillary carcinoma and urothelial carcinoma in situ (CIS). [10]  

Increased chromosomal instability and aneuploidy have been implicated in tumor progression. A study by Sokolova et al of 9 genetic markers for detecting urothelial carcinoma showed that polysomy of chromosomes 3, 7, and 17 and deletion of 9p21 were the most sensitive and specific markers, detecting 95% of recurrent urothelial carcinomas. [11] Halling et al established that a threshold of 5 or more cells with polysomy was 84% sensitive and 92% specific for detecting recurrent urothelial cancer. [10]  Tests for mutations in the FGFR3 oncogene may also hold promise for diagnosing and predicting recurrence. [4]   

For muscle-invasive bladder cancer (MIBC), a consensus on molecular classification has emerged.12 The consensus recognizes six molecular subgroup classes of MIBC, as follows:

  • Luminal papillary (LumP)
  • Luminal non-specified (LumNS)
  • Luminal unstable (LumU)
  • Stroma-rich
  • Basal/squamous (Ba/Sq)
  • Neuroendocrine-like (NE-like)

Differentiation patterns, oncogenic mechanisms, tumor micro-environments and histological and clinical associations are distinct for each of the six classes. However, research still needs to be conducted on the best clinical use of this classification.812

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