VHL stands for von Hippel-Lindau syndrome, which is a familial kidney cancer syndrome. In this syndrome, patients are born with a mutation in a segment of chromosome 3. Patients with this mutation are predisposed to develop kidney cancer in combination with tumors of the eye, brain, spinal cord, pancreas, and adrenal glands, almost all of which are characterized by an enriched blood supply.
Nephron tumors in patients with VHL are almost always renal clear cell carcinomas, which tend to occur at a younger age, usually in their 20s to 30s, and many patients will have more than one renal tumor during their lifetime. The vast majority of these tumors are small and less aggressive, but if they are allowed to grow, there is still a risk of distant metastases.
The fact that kidney cancer is the most common cause of death in VHL syndrome makes it especially important to take kidney tumors seriously. In this familial form of kidney cancer, the current consensus among oncologists is that if the tumor grows close to 3 cm in size, the tumor should be eliminated by surgery or ablation (cryoablation or radiofrequency ablation). Surgery or other techniques that preserve the kidney unit can preserve as much kidney function as possible and save the patient from the hardships of dialysis.
VHL is inherited in an autosomal dominant fashion, meaning that half of a patient’s children will inherit the mutated gene and eventually develop the disease, and most people with VHL have familial kidney cancer, brain tumors, eye tumors, and more.
So, once this syndrome is suspected, the patient needs to be evaluated for all possible symptoms of VHL, including CT (computed tomography) or MRI (magnetic resonance imaging) to examine the brain and spinal cord, and an ophthalmologist consultation needs to be requested. Genetic testing should also be considered, and all family members should be informed that they are at the same risk and need to be evaluated as early as possible.