Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.


Genetic and Rare Diseases Information Center (GARD)


See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My husband had surgery for a hemangioblastoma, but his doctors are clueless about what to do next. Should he have genetic testing?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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.[1][2]
Last updated: 7/5/2011

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.[2] 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.[3]
Last updated: 7/5/2011

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.[2]

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 herePlease 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: 7/5/2011

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 7/15/2016

See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.