Prognostic Genetic Signatures in Upper Tract Urothelial Carcinoma

Curr Urol Rep. 2016 Feb;17(2):12. doi: 10.1007/s11934-015-0566-y.


Urothelial carcinoma is a highly heterogeneous disease that can arise throughout the entire urothelial lining from the renal pelvis to the proximal urethra. Upper tract urothelial carcinoma (UTUC) is rare, and while it shares many similarities with urothelial carcinoma of bladder (UCB), there are also significant differences between UTUC and UCB regarding clinical management and outcomes. No major advances have been made recently in the development of new systemic therapies for urothelial carcinoma, partly due to the lack of understanding of underlying molecular pathogenetic mechanisms. In the past decade, the emergence of next-generation sequencing has greatly enabled genomic characterization of tumor samples. Researchers are currently exploring a personalized approach to augment traditional clinical decision-making based on genetic alterations. In the present review, we summarize current genomic advances in UTUC and discuss the potential implications of these developments for developing prognostic and predictive biomarkers.

Keywords: Biomarkers; Genomics; Prediction; Upper tract urothelial carcinoma.

Publication types

  • Review

MeSH terms

  • Animals
  • Epigenesis, Genetic
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Microsatellite Instability
  • Polymorphism, Single Nucleotide
  • Prognosis
  • Urinary Bladder Neoplasms / genetics*
  • Urinary Bladder Neoplasms / pathology