Von Hippel-Lindau Disease — Research Summary
Printed from RareWays (rareways.com.au) on 8 June 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].
Bertrand Jean et al. — Nephrologie & therapeutique (3 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41811690/
- 2.
All-in-One Case: Comprehensive Detection of VHL Syndrome With 68 Ga-DOTATATE PET/CT.
Calderon Tobar Merve Nida et al. — Clinical nuclear medicine (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41202074/
- 3.
Unclassified Renal Cell Carcinoma with Reverse Polarity and Pathogenic
Sugawara Emiko et al. — International journal of surgical pathology (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/40820381/
- 4.
Incidental Discovery of Synchronous Ileal Neuroendocrine Tumors at Fluorodopa PET/CT in a Patient With Bilateral Pheochromocytoma.
Drouet Clément et al. — Clinical nuclear medicine (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/40658992/
- 5.
Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.
Dembic Maja et al. — Molecular oncology (23 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41870981/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Belzutifan/MK-6482 for the Treatment of Advanced Pheochromocytoma/Paraganglioma (PPGL), Pancreatic Neuroendocrine Tumor (pNET), Von Hippel-Lindau (VHL) Disease-Associated Tumors, Advanced Gastrointestinal Stromal Tumor (wt GIST), or Solid Tumors With HIF-2α Related Genetic Alterations (MK-6482-015)
Recruiting — Phase 2 — Merck Sharp & Dohme LLC
https://clinicaltrials.gov/study/NCT04924075
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Von Hippel-Lindau Disease
Von Hippel-Lindau Disease is a rare hereditary condition caused by mutations in the VHL tumour suppressor gene, predisposing individuals to multiple tumours including haemangioblastomas of the brain and retina, clear cell renal cell carcinoma, and phaeochromocytoma. It affects approximately 1 in 36,000 people. Regular surveillance and targeted therapy with belzutifan are the current management approach.
Most Recent Research
We report the case of a 52-year-old man with Von Hippel-Lindau disease who had been receiving nocturnal home hemodialysis for ten months following bilateral nephrectomy for multifocal clear cell renal carcinoma. He presented with a firm, painless subcutaneous nodule on the right anterior thigh, featuring a central crater filled with chalky-white material. Skin biopsy revealed dermal calcium deposits surrounded by a fibrous and histiocytic reaction, consistent with dystrophic calcinosis cutis. Additional nodules were palpable on the left calf and right biceps. Bilateral femur X-rays were normal. Persistent hyperphosphatemia and inadequate dialysis likely contributed to the development of these extraosseous calcifications. Management included intensification of phosphate binder therapy and increased dialysis frequency. This case illustrates the potential interplay between hereditary tumor syndromes and dialysis-related mineral metabolism disorders, highlighting the risk of severe extraosseous calcifications in such patients.
Common Questions
What is Von Hippel-Lindau Disease?
Von Hippel-Lindau Disease is a rare hereditary condition caused by mutations in the VHL tumour suppressor gene, predisposing individuals to multiple tumours including haemangioblastomas of the brain and retina, clear cell renal cell carcinoma, and phaeochromocytoma. It affects approximately 1 in 36,000 people. Regular surveillance and targeted therapy with belzutifan are the current management approach.
How many clinical trials are available for Von Hippel-Lindau Disease?
RareWays currently indexes 38 clinical trials for Von Hippel-Lindau Disease, of which 17 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Von Hippel-Lindau Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
Get research updates
Monthly email when new findings are published for Von Hippel-Lindau Disease.
No spam. Unsubscribe any time. Not medical advice.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.