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Review
. 2022 Oct 30;14(21):5352.
doi: 10.3390/cancers14215352.

The Clinical and Molecular Features in the VHL Renal Cancers; Close or Distant Relatives with Sporadic Clear Cell Renal Cell Carcinoma?

Alessandra Cinque  1 , Roberto Minnei  2 , Matteo Floris  2 , Francesco Trevisani  1   3   4
Affiliations
Review

The Clinical and Molecular Features in the VHL Renal Cancers; Close or Distant Relatives with Sporadic Clear Cell Renal Cell Carcinoma?

Alessandra Cinque et al. Cancers (Basel). .

Abstract

Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome caused by germline mutations in the VHL tumor suppressor gene, characterized by the susceptibility to a wide array of benign and malign neoplasms, including clear-cell renal cell carcinoma. Moreover, VHL somatic inactivation is a crucial molecular event also in sporadic ccRCCs tumorigenesis. While systemic biomarkers in the VHL syndrome do not currently play a role in clinical practice, a new promising class of predictive biomarkers, microRNAs, has been increasingly studied. Lots of pan-genomic studies have deeply investigated the possible biological role of microRNAs in the development and progression of sporadic ccRCC; however, few studies have investigated the miRNA profile in VHL patients. Our review summarize all the new insights related to clinical and molecular features in VHL renal cancers, with a particular focus on the overlap with sporadic ccRCC.

Keywords: VHL; biomarkers; clear cell renal cell carcinoma (ccRCC); miRNA; sporadic ccRCC; von Hippel Lindau syndrome.

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Conflict of interest statement

Cinque is the founder and president of Biorek S.r.l.; Trevisani is the founderand CEO of Biorek S.r.l. The other co-authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Organ involvement in VHL disease, adapted from “Human Internal organs”, by BioRender.com (2022). Retrieved from https://app.biorender.com/biorender-templates (accessed on 1 October 2022).
Figure 2
Figure 2
The VHL-HIF pathway in normoxia, hypoxia, and VHL disease, adapted from “HIF signaling”, by BioRender.com (2022). Retrieved from https://app.biorender.com/biorender-templates (accessed on 1 October 2022).
Figure 3
Figure 3
VHL role in VHL-related RCC tumorigenesis, adapted from “Cell Differentiation Pathway (Layout, Vertical) 2”, by BioRender.com (2022). Retrieved from https://app.biorender.com/biorender-templates (accessed on 1 October 2022).
Figure 4
Figure 4
Clinical overview of VHL-related ccRCC, adapted from “4 Panels (Layout 2 × 2)”, by BioRender.com (2022). Retrieved from https://app.biorender.com/biorender-templates (accessed on 1 October 2022).
See this image and copyright information in PMC

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