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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Answer

Answer

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). [9]  

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. [10] 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. [9]  Tests for mutations in the FGFR3 oncogene may also hold promise for diagnosing and predicting recurrence. [4]   


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