Updated: Sep 26, 2017
  • Author: Konstantin V Slavin, MD; Chief Editor: Brian H Kopell, MD  more...
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Practice Essentials

In 1928, Cushing and Bailey introduced the term hemangioblastoma. [1] It refers to a benign vascular neoplasm that arises almost exclusively in the central nervous system. According to the World Health Organization classification of tumors of the nervous system, hemangioblastomas are classified as meningeal tumors of uncertain origin. [2, 3]  Since its original description, hemangioblastomas have been found in multiple regions of the central nervous system. Predominant involvement of the cerebellum and the spinal cord was noted, but true incidence of this tumor was not discovered until the increased availability of noninvasive diagnostic imaging modalities, particularly magnetic resonance imaging. This, in addition to significant improvement in surgical approaches and microsurgical technique, have made hemangioblastoma, although dangerous, a potentially treatable and curable disease. [4, 5, 6, 7, 8, 9, 10, 11] (See the image of supratentorial hemangioblastoma, below.)

Supratentorial hemangioblastoma proved by histolog Supratentorial hemangioblastoma proved by histologic analysis. Carotid arteriogram demonstrates a vascular, dense, tumor filled from the anterior cerebral vessels and not involving the sagittal sinus.

Presence of a hemangioblastoma rarely, if ever, alters normal anatomy. In choosing the appropriate surgical approach to the tumor, one must take into consideration the position of the mass, presence (or absence) of a large cystic component, associated hydrocephalus and surrounding edema, and the eloquence of neighboring neural and vascular structures. In most cases, cerebellar lesions may be removed through a suboccipital craniectomy, whereas spinal lesions are best addressed from a posterior direction through a laminectomy approach.

Etiology of the hemangioblastoma is obscure, but its presence in various clinical syndromes may suggest an underlying genetic abnormality. The genetic hallmark of hemangioblastomas is the loss of function of the von Hippel-Lindau (VHL) tumor suppressor protein. [12]  Upon gross examination, hemangioblastomas are usually cherry red in color. They may include a cyst that contains a clear fluid, but solid tumors are as common as cystic ones. The tumor usually grows inside the parenchyma of the cerebellum, brain stem, or spinal cord; it is attached to the pia mater and gets its rich vascular supply from the pial vessels. However, extramedullary and extradural hemangioblastomas have also been described. [13]

In many cases, symptoms caused by the growth of the neoplasm itself may be an indication for surgical intervention. In others, symptomatic obstruction of the cerebrospinal fluid (CSF) pathways may necessitate the operation. Asymptomatic lesions that sometimes are encountered in patients with multiple hemangioblastomas may be safely observed with frequent MRI scans to rule out tumor enlargement.

As always, surgical resection should be offered to the patient unless the risk of operation outweighs its potential benefits. Acute anticoagulation, the presence of active systemic infection, and severe medical problems that would make general anesthesia too risky generally are considered contraindications for an elective neurosurgical operation. However, the decision should be made on an individual basis.



Incidence and location

Hemangioblastomas are rare, and according to various series, they account for 1-2.5% of all intracranial neoplasms. [14, 15] Most hemangioblastomas are located in the posterior cranial fossa; in that region, hemangioblastomas comprise 8-12% of neoplasms. Hemangioblastoma is the most common primary adult intra-axial posterior fossa tumor. [16] Cerebellar hemangioblastomas are frequently referred to as Lindau tumors because Swedish pathologist Arvid Vilhelm Lindau first described them in 1926. [17]

The second most common location of hemangioblastomas is the spinal cord, [18, 19, 20, 21] where the frequency ranges from 2-3% of primary spinal cord neoplasms to 7-11% of spinal cord tumors. This tumor's occurrence in other locations, such as the supratentorial compartment, [22, 23, 24] the optic nerve, [25] the peripheral nerves, [26] or the soft tissues of extremities [27] is extremely rare.

Sex and age distribution

Hemangioblastomas are more common in men than in women. In most clinical series, the male-to-female ratio is approximately 2:1. Although hemangioblastomas may develop at any age, they rarely affect children; the usual age at diagnosis is between the third and fifth decades.

The peak age of incidence has been noted to be between 20 and 50 years. Hemangioblastomas are uncommon but not rare in patients older than 65 years. In a study at one institution, all patients (N = 77) were older than 18 years, and 6 of those were older than 65 years. [28, 29]

von Hippel-Lindau disease

Most hemangioblastomas arise sporadically. However, in approximately one quarter of all cases, they are associated with von Hippel-Lindau (VHL) disease, an autosomal dominant hereditary syndrome that includes retinal angiomatosis, central nervous system hemangioblastomas, and various visceral tumors most commonly involving the kidneys and adrenal glands. [30, 31, 32] This syndrome is classified as a phakomatosis, although it does not include any cutaneous manifestations. The syndrome has variable penetrance, but its dominant mode of transmission compels performing at least a screening of family members of patients diagnosed with VHL disease. In some patients with VHL disease, hemangioblastomas may produce erythropoietin-like substances, resulting in polycythemia at the time of diagnosis.