National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Anaplastic astrocytoma



My brother died last week from grade III anaplastic astrocytoma with some grade 4 characteristics on the biopsy. My uncle died approximately 20 years ago with anaplastic astrocytoma. Of course, I now have many concerns about a possible genetic link in the family. Both my brother and uncle were 41 at the time of death. We have many male family members. I am looking for direction and resources for a possible genetic link. Does this type of cancer mainly effect males? What should family members report to the primary care physicians? Should the family members become involved in genetic testing/counseling?


Are anaplastic astrocytomas inherited?

Anaplastic astrocytomas are usually not inherited. These tumors typically occur sporadically, in people with no family history of astrocytomas. In most cases, the exact cause is unknown.[1][2] Familial cases of isolated astrocytomas have been reported but are very rare.[2]

Astrocytomas can have a genetic link when they are associated with a few rare, inherited disorders. These include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis.[1][2] Astrosytomas occur more frequently in people with one of these disorders.[1]

Like many other cancers, it is believed that isolated astrocytomas may occur due to a combination of genetic and environmental factors. This means that a person may carry a gene (or a combination of genes) that predisposes them to developing an astrocytoma, but it may not develop unless it is "triggered" by an environmental factor.[1]
Last updated: 11/3/2014

Are anaplastic astrocytomas more common in males?

Yes. Anaplastic astrocytomas reportedly occur more frequently in males than in females, with a male-to-female ratio of 1.87 to 1.[2][1]
Last updated: 11/3/2014

Is genetic testing available for anaplastic astrocytomas?

When anaplastic astrocytomas are not associated with an inherited condition, the cause typically remains unknown. In these cases, genetic testing is not available. However, genetic testing is available for the few genetic disorders that are associated with an increased risk for developing an astrocytoma. These include neurofibromatosis type ILi-Fraumeni syndromeTurcot syndrome, and tuberous sclerosis.[1][2]

The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for these conditions. On the GTR Web site, search for a disorder to find out about the genetic tests that are available. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 11/3/2014

What information should people with a family history of anaplastic astrocytoma discuss with their doctors?

People should report as much family history information as they can to their primary care physicians and other health care providers. This includes updating all health care providers when there is a new diagnosis or a recent death in the family. People should also relay all specific concerns about their family history. When appropriate, the health care provider can recommend specific tests or evaluations, and/or refer you to a specialist with more knowledge about the condition.

While isolated anaplastic astrocytomas (occuring without associated conditions) are usually not inherited, rare, familial cases have been reported.[1][2] An anaplastic astrocytoma may also occur in more than one family member when there is a family history of a genetic condition that is associated with astrocytomas. These conditions may include neurofibromatosis type I, Li-Fraumeni syndrome, Turcot syndrome, and tuberous sclerosis.[1][2]

People who are concerned about a family history of anaplastic astrocytomas should discuss their concerns with a genetics professional and/or other health care provider. While family members share genes, they often also share some of the same environments and behaviors.[3] A genetics professional can help determine if genetic factors may be playing a significant role in the development of astrocytomas in the family. This includes determining whether a genetic condition associated with an increased risk of astrocytomas may be present in the family, and whether genetic testing is appropriate and available.
Last updated: 11/4/2014

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 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: 12/6/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Anaplastic astrocytoma. NORD. January 28, 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/277/viewAbstract. Accessed 11/3/2014.
  2. Jacques Grill. Astrocytoma. Orphanet. November, 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94. Accessed 11/3/2014.
  3. Family Health History. Genetics in Primary Care Institute. 2014; http://www.geneticsinprimarycare.org/YourPractice/Family-Health-History/Pages/Family-Health-History.aspx. Accessed 11/4/2014.
  4. Benjamin Kennedy. Astrocytoma. Medscape Reference. May 15, 2014; http://emedicine.medscape.com/article/283453-overview. Accessed 11/3/2014.