Key result
Recent molecular and clinical developments in von Hippel-Lindau disease, including lifelong screening programs and novel targeted therapies like HIF-2 antagonists, are improving patient outcomes.
Why the study?
Key molecular and clinical developments in VHL disease have the potential to impact the natural history of the disease and improve patient outcomes.
This review highlights recent molecular and clinical developments in von Hippel-Lindau disease, emphasizing the importance of lifelong surveillance and the potential of emerging targeted therapies like HIF-2 antagonists.
Supports genotype-guided VHL screening to improve outcomes; leaves open prospective validation of emerging therapies.
Purpose of Review In this review, we discuss the key molecular and clinical developments in VHL disease that have the potential to impact on the natural history of the disease and improve patient outcomes. Recent Findings Identifiable mutations inVHLunderlie most cases of VHL and define clear genotype-phenotype correlations. Detailed clinical and molecular characterisation has allowed the implementation of lifelong screening programmes that have improved clinical outcomes. Functional characterisation of the VHL protein complex has revealed its role in oxygen sensing and the mechanisms of tumourigenesis that are now being exploited to develop novel therapies for VHL and renal cancer. Summary The molecular and cellular landscape of VHL-associated tumours is revealing new opportunities to modify the natural history of the disease and develop therapies. Drugs are now entering clinical trials and combined with improved clinical and molecular diagnosis, and lifelong surveillance programmes, further progress towards reducing the morbidity and mortality associated with VHL disease is anticipated.
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Maher et al. (2019) conducted a review in von Hippel-Lindau (VHL) disease. Recent molecular and clinical developments in von Hippel-Lindau disease, including lifelong screening programs and novel targeted therapies like HIF-2 antagonists, are improving patient outcomes.
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