Rare Medical News

Advertisement

Disease Profile

Pilocytic 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.

0

N/A

US Estimated

N/A

Europe Estimated

Age of onset

All ages

ageofonset-all.svg
ageofonset-all.svg

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.

no.svg

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.

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

notapplicable.svg

Other names (AKA)

Juvenile pilocytic astrocytoma

Categories

Rare Cancers

Summary

Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. This type of tumor can often be cured with surgery.[1][2][3]

Symptoms

People with pilocytic astrocytomas might experience symptoms including: headaches, nausea, vomiting, irritability, ataxia (uncoordinated movement or unsteady gait), and vision issues.

These symptoms are associated with increased pressure within the skull resulting from the tumor or hydrocephalus.

Cause

The exact underlying cause of pilocytic astrocytomas is currently unknown. Although most are thought to be sporadic (occurring by chance in an affected individual), they are known to be associated with certain genetic disorders including neurofibromatosis type I (NF1), Li-Fraumeni syndrome, and tuberous sclerosis.[4]

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 Pilocytic astrocytoma. Click on the link to view a sample search on this topic.

        References

        1. General Information About Adult Brain Tumors. National Cancer Institute (NCI). July 2011; https://www.cancer.gov/cancertopics/pdq/treatment/adultbrain/Patient#Keypoint5. Accessed 9/16/2011.
        2. Juvenile Pilocytic Astrocytoma. National Organization for Rare Disorders (NORD). 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/775/viewAbstract. Accessed 9/15/2011.
        3. Pilocytic Astrocytoma. National Brain Tumor Society. 2013; https://www.braintumor.org/patients-family-friends/about-brain-tumors/tumor-types/pilocytic-astrocytoma.html. Accessed 8/9/2013.
        4. Juvenile Pilocytic Astrocytoma. NORD. 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1194/viewAbstract. Accessed 8/9/2013.
        5. Jacques Grill. Astrocytoma. Orphanet. November 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=94. Accessed 8/14/2013.
        6. Simon S Lo, MD, Sameer R Keole, MD, Kenneth J Levin, MD, Andrew E Sloan, MD, FACS, Karl Kish, MD, Eric L Chang, MD, James Fontanesi, MD. Imaging in Juvenile Pilocytic Astrocytoma. Medscape. 10/27/2015; https://emedicine.medscape.com/article/341293-overview. Accessed 12/22/2015.

        Rare Medical News