Von-Hippel Lindau syndrome
Von Hippel-Lindau syndrome
Genetics
[edit | edit source]- Mutation in a VHL tumour suppressor gene resulting in a type of phakomatosis
- Specific germline mutation in exon 3 of the VHL gene is associated with a more aggressive phenotype
Risks
[edit | edit source]- RCC
- Phaeochromocytoma
- Benign tumours of CNS, retina, epididymis and inner ear
- Pancreatic lesions
- PNETs - which generally behave in an indolent fashion
- Microcystic adenomas
- Simple cysts
- Haemangioblastoma - retinal, cerebellar, medullary
Management
[edit | edit source]- Observe PNETs until they reach 2-3cm in size