S. Richard et al., Central nervous system hemangioblastomas, endolymphatic sac tumors, and von Hippel-Lindau disease, NEUROSURG R, 23(1), 2000, pp. 1-22
Von Hippel-Lindau disease (VHL) is a hereditary cancer syndrome caused by g
ermline mutations of the VHL tumor suppressor gene. Major progress has been
made in the last decade in both clinical and fundamental aspects of VHL. T
he VHL gene product, pVHL, has major and multiple functions: pVHL regulates
not only first angiogenesis but also extracellular matrix formation and th
e cell cycle. A molecular diagnosis of VHL is now available, leading to a t
ransformation in clinical management of patients and their families. Diagno
sis of VHL has to be suspected in patients with a VHL-related tumor without
familial history and especially in case of hemangioblastoma or endolymphat
ic sac tumors. Such patients should be systematically investigated for clin
ical and molecular evidence of VHL disease. Treatment of symptomatic hemang
ioblastomas remains mainly neurosurgical, often in emergency, but stereotac
tic radiosurgery is emerging as an alternative therapeutic procedure. In th
e future, antiangiogenic drugs could represent a potential medical treatmen
t of CNS hemangioblastomas in view of their highly vascular structure. Last
ly, visceral manifestations of VHL disease are also of critical importance
and require early detection for effective treatment.