Rare Medical News

Disease Profile

Anaplastic astrocytoma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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N/A

US Estimated

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Europe Estimated

Age of onset

Adult

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ICD-10

C71.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Grade III astrocytoma

Categories

Nervous System Diseases; Rare Cancers

Summary

Anaplastic astrocytoma is a rare, cancerous (malignant) type of brain tumor that arises from star-shaped brain cells called astrocytes. These cells surround and protect nerve cells in the brain and spinal cord. An anaplastic astrocytoma usually develops slowly over time, but may develop rapidly. Signs and symptoms vary depending on the location and size of the tumor and may include headaches, drowsiness, vomiting, and changes in personality or mental status. Some affected people have seizures, vision problems, weakness of the limbs, and/or coordination problems. Anaplastic astroctyomas usually occur sporadically but can be associated with a few rare, genetic disorders. Treatment may include surgery, radiation, and/or chemotherapy.[1]

Diagnosis

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 I, Li-Fraumeni syndrome, Turcot 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.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Anaplastic astrocytoma. Click on the link to view a sample search on this topic.

        References

        1. Anaplastic astrocytoma. NORD. January 28, 2014; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/277/viewAbstract. Accessed 11/3/2014.
        2. Jacques Grill. Astrocytoma. Orphanet. November, 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94. Accessed 11/3/2014.

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