What causes hemangioblastoma?

Most hemangioblastomas rise sporadically, without a known cause. However, in about one quarter of all cases, they are associated with von Hippel-Lindau (VHL) syndrome. VHL is an inherited condition characterized by the abnormal growth of tumors in certain parts of the body. The specific tumors that are associated with VHL syndrome include hemangioblastomas of the brain, spinal cord, and retina; kidney cysts and clear cell kidney cell carcinoma; pheochromocytomas; and endolymphatic sac tumors. Mutations in the VHL gene cause von Hippel-Lindau syndrome. These mutations are inherited in an autosomal dominant pattern.

Last updated on 05-01-20

Is genetic testing available for hemangioblastoma?

Although the exact cause of hemangioblastoma is unknown, its presence in various clinical syndromes may suggest an underlying genetic abnormality. The genetic hallmark of hemangioblastomas is the loss of function of the VHL gene.

GeneTests lists the names of laboratories that are performing genetic testing for von Hippel-Lindau syndrome. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you.

Last updated on 05-01-20

What is a hemangioblastoma?

A hemangioblastoma is a benign, highly vascular tumor that can occur in the brain, spinal cord, and retina (the light-sensitive tissue that lines the back of the eye). This tumor accounts for about 2% of brain tumors. As it enlarges, it presses on the brain and can cause neurological symptoms, such as headaches, weakness, sensory loss, balance and coordination problems, and/or hydrocephalus (a buildup of spinal fluid in the brain). Most hemangioblastomas occur sporadically. However, some people develop hemangioblastomas as part of a genetic syndrome called von Hippel-Lindau syndrome. These people usually develop multiple tumors within the brain and spinal cord over their lifetime.

Last updated on 05-01-20

How might a hemangioblastoma be treated?

Surgery is considered the standard treatment for hemangioblastoma and usually cures this condition. Following surgery, individuals who have had a hemangioblastoma should continue to visit their physician regularly for physical examinations and magnetic resonance imaging (MRI) of the brain. These suggested guidelines for follow-up after hemangioblastoma do not state how frequently physician visits or MRIs should be.

Last updated on 05-01-20

Name: VHL Alliance 1208 VFW Parkway Suite 303
Boston, MA, 02132, United States
Toll Free: 800-767-4845 Fax : 858-712-8712 Email: info@vhl.org Url: http://www.vhl.org
Name: American Brain Tumor Association 8550 W. Bryn Mawr Ave, Ste 550
Chicago, IL, 60631, United States
Phone: +1-773-577-8750 Toll Free: 1-800-886-2282 Fax : +1-773-577-8738 Email: info@abta.org Url: https://www.abta.org/
Name: National Brain Tumor Society 55 Chapel St., Suite 200
Newton, MA, 02458, United States
Phone: +1-617-924-9997 Fax : +1-617-924 -9998 Email: http://braintumor.org/our-mission/contact-us/ Url: http://braintumor.org/
Name: International Brain Tumour Alliance 10 Carrodus Street, Fraser, ACT, 2615
Email: chair@theibta.org Url: http://www.theibta.org/

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