Rare Hematology News

Disease Profile

Myxopapillary 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

All ages

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ICD-10

D43.2

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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Summary

Myxopapillary ependymoma (MEPN) is a slow-growing ependymoma (a type of glioma, which is a tumor that arises from the supportive tissue of the brain and spinal cord).[1] They tend to occur in the lower part of the spinal column and are usually considered to be benign, low-grade or grade I tumors.[2] The age of diagnosis ranges from 6 to 82 years. Symptoms of an ependymoma are related to the location and size of the tumor and may include nausea, vomiting, headache, pain, numbness, bowel or bladder symptoms, and various other signs and symptoms. The cause of ependymomas is unknown.[2] They are known to recur locally (more commonly in individuals diagnosed in childhood).[3][1] Treatment may vary depending on the location, grade, and whether the tumor has spread to the spine,[2] but typically includes aggressive surgery.[1] Management may also include chemotherapy and radiation therapy.[3]

Treatment

Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outlook in these cases. However, surgery is typically less curative in tumors that are large, multifocal or extend outside the spinal cord. These tumors have the potential to regrow after the initial diagnosis and surgery (recur), particularly in individuals diagnosed as children.[1] Following surgery, radiation therapy may be considered to destroy any cancer cells that could remain in the body. The use of chemotherapy as another treatment of myxopapillary ependymoma remains controversial; chemotherapy has been widely used in pediatric individuals due to more aggressive disease.[4] The usefulness of additional therapies following surgery is unclear for the subset of individuals with recurrence or in individuals in whom total resection cannot be achieved.[1]

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

      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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Myxopapillary ependymoma. Click on the link to view a sample search on this topic.

        References

        1. Valerie N Barton et al. Unique Molecular Characteristics of Pediatric Myxopapillary Ependymoma. Brain Pathology. May 2010; 20(3):560-570. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2871180/?tool=pubmed. Accessed 4/7/2011.
        2. Ependymoma. American Brain Tumor Association. https://www.abta.org/siteFiles/pdflibrary/ABTA_Ependymoma_Pamph_7%202%2010.pdf. Accessed 4/7/2011.
        3. Jeffrey N Bruce. Ependymoma. Medscape. January 26, 2009; https://www.medscape.com/viewarticle/465375_2. Accessed 4/7/2011.
        4. Shonka NA. Targets for therapy in ependymoma. Targeted Oncology. March 29, 2011; Epub:https://www.ncbi.nlm.nih.gov/pubmed/21445635. Accessed 4/7/2011.

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