What the neurosurgeon should know about hemangioblastoma, both sporadic and in Von Hippel-Lindau disease: A literature review

Abstract

Background:Hemangioblastomas are associated with Von Hippel-Lindau disease (VHLD) in 10-40% of cases. Based upon a literature review we state the core features the neurosurgeon should be aware of.Methods:We performed a selective literature (Cochrane and Medline) search for hemangioblastoma, both sporadic and VHL associated. We reviewed general characteristics (epidemiology, symptomatology, diagnosis, and management) and focused on follow-up as well as screening modalities for sporadic and VHL associated lesions.Results:Based upon our literature search, we established guidelines for screening and follow-up in both sporadic and VHL associated hemangioblastoma patients.Conclusions:Screening for retinal angiomas, abdominal masses, and pheochromocytomas as well as genetic analysis is recommended for every patient with a newly diagnosed hemangioblastoma. Follow-up is by magnetic resonance imaging (MRI) of the clinical neuronal region at 6 and at 12-24 months postoperatively. For VHL-associated hemangioblastomas yearly investigation for craniospinal hemangioblastoma by MRI and yearly screening and follow-up for retinal angiomas is recommended. Annual abdominal ultrasound with triennial computed tomography (CT) imaging for abdominal masses is postulated. Annual audiometry is to be performed for possible endolymphatic sac tumor, detailed radiographic imaging of the skull base should be performed upon abnormality in auditory testing. Investigations for cystadenomas of the epidydimis and broad ligament only are mandatory on indication. Annual investigation for pheochromocytoma is recommended.

Treatment Strategies for Cerebellar Hemangioblastomas: Simple or Further Studies?

“…Sporadic hemangioblastomas account for approximately 75% of all hemangioblastomas; they usually occur as a solitary lesion in patients in the fourth and fifth decades of life, which is older than patients who have hemangioblastomas associated with von Hippel-Lindau (VHL) disease (1). The first-line treatment for sporadic, especially solitary, cerebellar hemangioblastomas is total resection of the lesion because complete resection is feasible, and most of the lesion does not recur.…”

Endolymphatic Sac Tumors

“…30,31 VON HIPPEL-LINDAU DISEASE VHL disease was first described in the early 20th century by the German ophthalmologist Eugene von Hippel and the Swedish pathologist Avrid Lindau. 32 VHL disease is an autosomal-dominant, multisystem disorder characterized by cerebellar hemangioblastomas, retinal angiomas, renal or pancreatic cysts, renal cell carcinoma, pheochromocytomas, and other visceral tumors. VHL disease has a prevalence of 1 in 39,000 individuals, of which 11% will develop ELST and, of those patients, 30% will have bilateral lesions.…”

Surgical treatment of cerebellar hemangioblastomas

“…Approximately 80% are sporadic, whereas 20–25% develop in the context of VHL disease. [ 4 ] Sporadic lesions are usually single, and are found most often in men around 40 years of age. VHL-associated HBLs present at an earlier age, 32 years on average, lesion size is smaller, tumor are often multiple, predominantly cystic, and with a mural nodule.…”

“…Sporadic lesions are more common (approximately 75%), are usually large and single, and present most often in individuals between 30 and 65 years of age; whereas lesions associated with VHL (25%) are usually multiple, smaller in size, and affect younger individuals. [ 4 29 ] The cerebellum is affected the most, however, these lesions may arise in decreasing order of frequency in the spinal cord, brainstem, supratentorial region, and cauda equine. [ 38 ] VHL is a hereditary autosomal dominant condition caused by a mutation in the VHL gene, located on the short arm of chromosome 3.…”