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

Prognostic Genetic Signatures in Upper Tract Urothelial Carcinoma

Affiliations
Review

Prognostic Genetic Signatures in Upper Tract Urothelial Carcinoma

Qiang Li et al. Curr Urol Rep. 2016 Feb.

Abstract

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.

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Figures

Figure 1
Figure 1
Representation of the 14 most frequently altered genes in a series of 82 upper tract urothelial carcinoma tumors. Mutations are categorized as missense mutations reported in COSMIC (green), gene fusions (black triangle), novel missense mutations (gray), truncating nonsense mutations or indels (black), amplifications (red), and deletions (blue).

References

    1. Roupret M, et al. European guidelines on upper tract urothelial carcinomas: 2013 update. Eur Urol. 2013;63(6):1059–1071. - PubMed
    1. Rigola MA, et al. Comparative genomic hybridization analysis of transitional cell carcinomas of the renal pelvis. Cancer Genet Cytogenet. 2001;127(1):59–63. - PubMed
    1. Misumi T, et al. DNA copy number aberrations associated with lymphovascular invasion in upper urinary tract urothelial carcinoma. Cancer Genet. 2012;205(6):313–318. - PubMed
    1. Sasaki Y, et al. HER2 protein overexpression and gene amplification in upper urinary tract urothelial carcinoma-an analysis of 171 patients. Int J Clin Exp Pathol. 2014;7(2):699–708. - PMC - PubMed
    1. Sfakianos JP, et al. Genomic Characterization of Upper Tract Urothelial Carcinoma. Eur Urol. 2015 This manuscript is the largest series of UTUC tumors profiled using next- generation sequencing and provided the molecular landscape of UTUC and potential actionable genomic targets in UTUC.