- Autosomal-dominant
- Germline pathogenic variants in the VHL gene
- tumour suppressor gene
CNS
- Paragangliomas
- Hemangioblastomas
- Retinal, Cerebellar, Brainstem, Spinal cord
- Endolymphatic sac tumors
Viscera
- Renal cell carcinoma or cysts
- Pheochromocytoma
- Pancreatic tumor or cyst/Pancreatic neuroendocrine neoplasms
- Epididymal cystadenomas
- Adnexal papillary cystadenoma of mesonephric origin (broad ligament cystadenoma)
Diagnosis
- Established through detection of a germline pathogenic variant in the VHL gene
Surveillance
- Annual plasma metanephrines and normetanephrines.
- Regular pancreatic imaging (CT or MRI)