Von Hippel-Lindau Disease — Research Summary
Printed from RareWays (rareways.com.au) on 26 July 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Montage Error in Ultra-Widefield Imaging of Retinal Hemangioblastomas.
Belmouhand M et al. (23 June 2026)
https://pubmed.ncbi.nlm.nih.gov/42344278/
- 2.
Surgical and Oncologic Outcomes After Pancreatectomy for Pancreatic Neuroendocrine Tumor in Multiple Endocrine Neoplasia Type 1 and von Hippel-Lindau Syndrome: A Large, Multi-Institutional, Cohort Study.
Zhang Liti et al. — Journal of the American College of Surgeons (1 June 2026)
https://pubmed.ncbi.nlm.nih.gov/41642264/
- 3.
End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.
Damen L et al. — Journal of medical genetics (25 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41702693/
- 4.
Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome.
Liu T et al. (25 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41856557/
- 5.
Hereditary Pheochromocytoma as a Major Manifestation of von Hippel Lindau Disease (vHL) in Childhood: Long-term Follow-up of Five Patients with vHL from One Family.
Pasternak-Pietrzak Katarzyna et al. — Journal of clinical research in pediatric endocrinology (22 May 2026)
https://pubmed.ncbi.nlm.nih.gov/39311599/
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
A 20-year-old male presented with three large retinal hemangioblastomas in the left eye. At the 5-week follow-up, automated montage ultra-widefield imaging appeared to demonstrate a fourth lesion, suggesting possible disease progression. Clinical examination, however, confirmed the presence of only three tumors. Re-evaluation of the automated image stitching revealed misidentification of the optic nerve head in one of the source images, resulting in image misalignment and the false appearance of an additional lesion. Systemic evaluation demonstrated central nervous system hemangioblastomas and a renal cyst, and genetic testing confirmed von Hippel-Lindau disease. This case illustrates both the diagnostic utility and limitations of ultra-widefield montage imaging and highlights the importance of clinical verification of apparent lesion increase before concluding true progression.
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 39 clinical trials for Von Hippel-Lindau Disease, of which 16 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.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.