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Published on: February 8, 2020
Von Hippel-Lindau disease-associated renal cell carcinoma: a call to action
Alessandro Larcher1, Isaline Rowe1, Federico Belladelli1
1Division of Experimental Oncology, Department of Urology, URI - Urological Research Institute.
Purpose Of Review:
While the molecular and genetic bases of Von Hippel-Lindau (VHL) disease have been extensively investigated, limited evidence is available to guide diagnosis, local or systemic therapy, and follow-up. The aim of the current review is to summarize the ongoing trials both in preclinical and clinical setting regarding VHL disease management.
Recent Findings:
Although genotype/phenotype correlations have been described, there is considerable inter and intra-familiar heterogeneity in VHL disease. Genetic anticipation has been reported in VHL disease. From a clinical point of view, expert-opinion-based protocols suggest testing those patients with any blood relative of an individual diagnosed with VHL disease, those with at least 1 or more suggestive neoplasms or patients presenting with clear cell renal cell carcinoma (ccRCC) diagnosed at a less than 40 years old, and/or multiple ccRCC. Clinical research is focused on safety and efficacy of systemic agents for patients with VHL-related ccRCC, with the aim to possibly preserve kidney function and improve patient survival.
Summary:
To date, preclinical and clinical research on the topic is scarce and clinical guidelines are not supported by strong validation studies.
Insights
Research on Von Hippel-Lindau (VHL) disease management is limited, with ongoing trials focusing on systemic agents for clear cell renal cell carcinoma (ccRCC) to improve survival and kidney function.
Area of Science:
- Genetics and Molecular Biology
- Oncology
- Nephrology
Background:
- Von Hippel-Lindau (VHL) disease has well-studied molecular and genetic underpinnings.
- However, evidence guiding diagnosis, therapy, and follow-up remains limited.
- Significant inter- and intra-familial heterogeneity exists in VHL disease presentation.
Purpose of the Study:
- To review ongoing preclinical and clinical trials for VHL disease management.
- To summarize current understanding and future directions in VHL disease care.
Main Methods:
- Review of current scientific literature and ongoing clinical trials.
- Analysis of genotype/phenotype correlations and clinical management protocols.
Main Results:
- Expert-opinion protocols suggest specific testing criteria for VHL disease.
- Clinical research prioritizes safety and efficacy of systemic agents for VHL-related clear cell renal cell carcinoma (ccRCC).
- Focus is on kidney function preservation and enhanced patient survival.
Conclusions:
- Preclinical and clinical research in VHL disease management is currently scarce.
- Existing clinical guidelines lack strong validation studies.
- Further research is needed to establish robust evidence-based management strategies.
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