The first prospective trial for von Hippel-Lindau disease: pazopanib
Mené sur 31 patients atteints d'une maladie de Von Hippel-Lindau, une maladie autosomique dominante (carcinome à cellules rénales, lésion pancréatique, hémangioblastome du système nerveux central), cet essai de phase II évalue l'efficacité, du point de vue de la proportion de patients obtenant une réponse objective, et la toxicité du pazopanib
Von Hippel-Lindau disease is an autosomal dominant, inherited, tumour predisposition syndrome characterised by a variety of benign and malignant lesions. The most important lesions are hemangioblastomas of the retina, cerebellum, brain stem, and spinal cord; endolymphatic sac tumours; pheochromocytomas; epididymal cystadenomas; different pancreatic tumours (including neuroendocrine tumours) and cysts; and clear cell carcinomas and cysts of the kidney. Patients who follow a regular clinical screening programme and have preventive treatment of lesions when available have a good life expectancy, but patients frequently have symptoms or limitations due to tumours or treatment side-effects. Psychosocial factors might further worsen quality of life. In the Dutch patient registry, a patient with von Hippel-Lindau disease will typically have had seven tumours treated by the age of 60 years. No systemic treatments are available for the management of von Hippel-Lindau disease.
The Lancet Oncology , commentaire, 2017