Results from the first prospective trial of systemic treatment for von Hippel-Lindau (VHL) disease show that the antiangiogenic agent pazopanib (Votrient, Novartis) could offer a "realistic option" to surgical resection in patients with this rare, inherited cancer syndrome.
The research which was a single-arm, nonrandomized phase 2 trial was conducted in 31 patients with VHL disease. It showed that pazopanib was associated with activity in renal cell carcinomas and pancreatic serous cystadenomas and demonstrated potential signs of activity in central nervous system (CNS) and retinal hemangioblastomas.
The study, was published online September 17 in the Lancet Oncology.
This data is practice-changing for patients with von Hippel-Lindau disease because they provide an alternative approach to surgical intervention in the management of growing lesions, there is no established systemic therapy for this disease.
The autosomal dominant tumor predisposition disorder, caused by germline mutations (what you are born with) in the VHL gene, affects approximately 1 in 35,000 live births each year.
It is characterized by a variety of highly angiogenic lesions that can be benign or malignant. Patients with VHL disease develop retinal, cerebellar, and spinal hemangioblastomas, renal cysts, clear cell renal cell carcinomas, pancreatic cysts, pancreatic neuroendocrine tumors, pheochromocytomas, endolymphatic sac tumors of the middle ear, and epidydimal or round ligament cysts.
Meningiomas, lung cancer, and testicular tumors have also been observed in VHL disease, although much less frequently.