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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
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.
Anaplastic ependymoma is a type of ependymoma, which is a
The exact cause of an anaplastic ependymoma is not known, but it is thought that certain changes (acquired pathogenic variants, also known as
Adults and children who have ependymomas in the brain may experience symptoms including headaches, nausea, vomiting,
Most people have symptoms of ependymomas for about 3-6 months before they are diagnosed with a tumor.
Exactly what causes a cell to develop a genetic change that causes anaplastic ependymoma is not clear. There are not any specific
Other treatments may be used such as steroids to reduce swelling (edema) caused by the tumor, medications to stop
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.
Collaborative Ependymoma Research Network (CERN Foundation)
P.O. Box 217
Zionsville, IN 46077
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.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
- 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.
- Bruce JN, Fusco DJ, Feldstein NA, and Kennedy B. Ependymoma. Medscape. February 2, 2018; https://emedicine.medscape.com/article/277621-overview.
- Adult Central Nervous System Tumors Treatment – Health Professional Version. National Cancer Institute. January 31, 2018; https://www.cancer.gov/types/brain/hp/adult-brain-treatment-pdq#section/all.
- Ependymoma – Childhood: Risk Factors. American Society of Clinical Oncology. November 2016; https://www.cancer.net/cancer-types/ependymoma-childhood/risk-factors.
- Lee JW, Lim DH, Sung KW, Lee HJ, Yi ES, Yoo KH, Koo HH, Suh YL, and Shin HJ. Multimodal treatment including tandem high-dose chemotherapy and autologous stem cell transplantation in children with anaplastic ependymomas. Pediatric Transplantation. February 16, 2018; https://www.ncbi.nlm.nih.gov/pubmed/29453811.
- Childhood Ependymoma Treatment – Health Professional Version. PDQ Cancer Information Summaries. January 24, 2018; https://www.ncbi.nlm.nih.gov/books/NBK65935/.
- Villano JL, Parker CK, and Dolecek TA. Descriptive epidemiology of ependymal tumors in the United States. British Journal of Cancer. June 11, 2013; 108(11):2367-2371. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681017/.
- Gentile MS, Yeap BY, Paganetti H, Goebel CP, Gaudet DE, Gallotto SL, Weyman EA, Morgan ML, MacDonald SM, Giantsoudi D, Adams J, Tarbell NJ, Kooy H, and Yock TI. Brainstem Injury in Pediatric Patients With Posterior Fossa Tumors Treated with Proton Beam Therapy and Associated Dosimetric Factors. International Journal of Radiation Oncology, Biology, Physics. March 1, 2018; 100(3):719-729. https://www.ncbi.nlm.nih.gov/pubmed/29413284.