Rare Pulmonology News

Disease Profile

Anaplastic ependymoma

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.

Unknown

Age of onset

Childhood

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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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Categories

Rare Cancers

Summary

Anaplastic ependymoma is a type of ependymoma, which is a tumor that forms when cells in the central nervous system (including the brain and spinal cord) begin to multiply rapidly. An ependymoma is anaplastic if the cells grow very quickly and are significantly unusual in shape. Ependymomas can occur at any age. When ependymomas occur in children, they are more frequently located in the brain (intracranial). Ependymomas are more often found in the spinal cord of affected adults. Symptoms of an anaplastic ependymoma depend on the age of the person and the size and location of the tumor but may include headachesnausea, vision changes, seizures, and changes in mood or personality.[1][2] 

The exact cause of an anaplastic ependymoma is not known, but it is thought that certain changes (acquired pathogenic variants, also known as somatic mutations ) in specific genes in some cells of the body allow the cells to begin growing quickly.[1] A diagnosis of anaplastic ependymoma is generally suspected based on imaging with MRI or CT scan. The diagnosis can be confirmed with a biopsy of the tumor or when the tumor is removed (resected). Treatment for anaplastic ependymoma begins with surgery to remove as much of the tumor as possible. Radiation therapy is also recommended for people with anaplastic ependymoma.[1]

Symptoms

The signs and symptoms of anaplastic ependymoma can vary based on the age of the person who has the tumor and the location of the tumor. Ependymomas in the brain (intracranial) are more common in children with the tumors, and ependymomas in the spinal cord are more common in adults with the tumors.[1]

Adults and children who have ependymomas in the brain may experience symptoms including headachesnausea, vomiting, seizures, tiredness (lethargy), changes in thinking or concentration, and uncontrolled movements of the eyes (nystagmus). Children who have an ependymoma in the brain may have an increased head size due to fluid trapped in the skull by the tumor (hydrocephalus).[1] Adults and children who have an ependymoma in the spinal cord may experience symptoms including pain, weakness, paralysis, sensory changes, neck stiffness, and loss of reflexes.[1]

Most people have symptoms of ependymomas for about 3-6 months before they are diagnosed with a tumor.[1]

Cause

An anaplastic ependymoma is thought to be caused by genetic changes that cause cells of the central nervous system to grow more quickly than they normally do. This causes a tumor to develop. When the cells grow very quickly and become unusually shaped, the tumor is known as an anaplastic ependymoma.[1] The genetic changes that are thought to cause an anaplastic ependymoma are not present in every cell in the body and are not present from birth. Instead, the genetic change happens sometime during a person's lifetime and only in the cell from which an anaplastic ependymoma begins. This acquired genetic change (somatic mutation) causes the cell to multiply very rapidly, passing the genetic change down to each of its daughter cells, which then also multiply rapidly, forming a tumor. 

Exactly what causes a cell to develop a genetic change that causes anaplastic ependymoma is not clear. There are not any specific environmental factors that are known to cause an increased risk for anaplastic ependymoma.[1][3]

Diagnosis

Anaplastic ependymoma may be suspected when a doctor observes signs and symptoms consistent with having a tumor in the brain or spinal cord. These symptoms may include headachesnausea, vomiting, seizures, or paralysis. A doctor may then order imaging of the brain or spinal cord with an MRI or CT scan. Anaplastic ependymomas may have specific features that can be seen on an MRI or CT scan that can make a doctor think that the tumor is an anaplastic ependymoma. The diagnosis can be confirmed with a biopsy or when the tumor is removed (resected).[1]

Treatment

Treatment for anaplastic ependymoma typically begins with surgery to remove as much of the tumor as possible. After surgery, most people with anaplastic ependymoma receive radiation therapy, even if it looks like the whole tumor was removed. This is because the cells of an anaplastic ependymoma can grow quickly, and radiation therapy can reduce the chances that the tumor comes back (recurs). Other treatments, such as chemotherapy, may be used if the tumor does recur.[1][2] Studies to determine the exact genetic changes in a tumor may help provide information about the long-term outlook as well as treatment options specific to the characteristics of the tumor.[1]

Other treatments may be used such as steroids to reduce swelling (edema) caused by the tumor, medications to stop seizures, and physical or occupational therapy.[1] In some cases, chemotherapy with stem-cell transplantation may be used to treat anaplastic ependymomas.[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

    Organizations Providing General Support

      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.

        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.

          References

          1. Bruce JN, Fusco DJ, Feldstein NA, and Kennedy B. Ependymoma. Medscape. February 2, 2018; https://emedicine.medscape.com/article/277621-overview.
          2. 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.
          3. Ependymoma – Childhood: Risk Factors. American Society of Clinical Oncology. November 2016; https://www.cancer.net/cancer-types/ependymoma-childhood/risk-factors.
          4. 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.
          5. Childhood Ependymoma Treatment – Health Professional Version. PDQ Cancer Information Summaries. January 24, 2018; https://www.ncbi.nlm.nih.gov/books/NBK65935/.
          6. 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/.
          7. 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.

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