Rare Gastroenterology News

Disease Profile

Ewing sarcoma

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

C40.0 C40.1 C40.2 C40.3 C41.2 C41.3 C41.4

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)

Ewing's tumor; Sarcoma, Ewing's; Ewing tumor;

Categories

Musculoskeletal Diseases; Rare Cancers

Summary

Ewing sarcoma is a type of cancerous tumor that mainly affects children and young adults. Ewing sarcoma usually occurs in the long bones of the arms and legs, pelvis, or chest. Symptoms may include swelling over the location of the tumor, and pain which gets worse over time. Other symptoms may depend on the size and location of the tumor. Ewing sarcoma can spread to other parts of the body (metastasize), and other symptoms may develop such as fever, night sweats, and tiredness. The cause of Ewing sarcoma is unknown. Diagnosis is based on a clinical examination, health history, imaging studies, and blood tests. A biopsy to examine a small piece of the tumor under a microscope is also often done. Treatment depends upon the size, location, and whether the tumor has spread. It usually includes chemotherapy, radiation and/or surgery. Many people with Ewing sarcoma experience side effects from treatment which can include decreased numbers of white blood cells, infections, fever, and an increased risk for a second cancer.[1][2][3][4]

Symptoms

The following list includes the most common signs and symptoms in people with Ewing sarcoma. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms of Ewing sarcoma may include:[2][3]

  • Pain in one area of the body
  • Swelling
  • A lump under the skin
  • Bone fracture that occurs without a reason

If the tumor has spread to other parts of the body (metastasis), other symptoms may develop including fever, night sweats, and tiredness. The long-term outlook for someone with Ewing sarcoma depends on many different factors.[4] Some of these factors include:

  • Age
  • Size and location of tumor
  • Presence of metastasis
  • Underlying health conditions

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Ewing sarcoma
0012254
Somatic mutation
0001428

Cause

The tumor cells of Ewing sarcoma have a characteristic genetic finding, called a reciprocal translocation. This creates an abnormal rearrangement of genetic material, and causes two genes, the EWSR1 gene on chromosome 22 and the FLI1 gene on chromosome 11 to fuse together.[2][5] This fusion gene leads to abnormal cell growth. The reciprocal translocation occurs by chance and is only found in tumor cells (somatic mutation). It is not inherited in families. It is unknown what causes the reciprocal translocation to occur.

Diagnosis

The diagnosis of Ewing sarcoma is made based on a clinical examination, imaging studies, and a biopsy to remove a small piece of the tumor to look at under the microscope. The cells of the tumor are examined for features unique to Ewing sarcoma. Other tests may include blood chemistry studies and a biopsy of the bone marrow.[3][6]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Treatment for Ewing sarcoma depends on the size and location of the tumor, and whether or not it has spread to other parts of the body (metastasis). Generally, treatment includes surgery to remove the tumor, radiation therapy and chemotherapy.[2][4][6]

    FDA-Approved Treatments

    The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

    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

          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.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • 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 Ewing sarcoma. Click on the link to view a sample search on this topic.

            References

            1. Grohar PJ. Ewing Sarcoma. National Organization for Rare Disorders (NORD). 2013; https://rarediseases.org/rare-diseases/ewing-sarcoma/.
            2. Grünewald TGP, Cidre-Aranaz F, Surdez D, et al. Ewing sarcoma. Nat Rev Dis Primers. 2018; 4(1):5. https://pubmed.ncbi.nlm.nih.gov/29977059.
            3. Durer S, Shaikh H. Cancer, Ewing Sarcoma. In: StatPearls. Treasure Island (FL): StatPearls Publishing. Updated June 23, 2020; https://pubmed.ncbi.nlm.nih.gov/32644609.
            4. Hamilton SN, Carlson R, Hasan H, Rassekh SR, Goddard K. Long-term Outcomes and Complications in Pediatric Ewing Sarcoma. Am J Clin Oncol. 2017;40(4):423-428. 2017; 40(4):423-428. https://pubmed.ncbi.nlm.nih.gov/25599318.
            5. Ewing sarcoma. Genetics Home Reference (GHR). Updated June 2016; https://ghr.nlm.nih.gov/condition/ewing-sarcoma.
            6. Pediatric Treatment Editorial Board. Ewing Sarcoma Treatment (PDQ®): Patient Version. In: PDQ Cancer Information Summaries. Bethesda (MD): National Cancer Institute (US). February 28, 2020; https://pubmed.ncbi.nlm.nih.gov/26389350.

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