Rare Neurology News

Disease Profile

Epithelioid 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adolescent

ICD-10

C49.9

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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Summary

Epithelioid sarcoma (ES) is a rare cancerous tumor that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It can also occur elsewhere in the body. ES usually begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the growth. This type of tumor often comes back after treatment or spreads to other parts the body (metastasis). The cause of epithelioid sarcoma is unknown. It is diagnosed by a clinical examination and by testing a small sample of the tumor (biopsy) in a laboratory. Epithelioid sarcoma is treated with surgery to remove all the cancer cells (wide local excision) and sometimes with radiation therapy. Chemotherapy may also be used if the cancer has spread to other parts of the body.[1][2][3]

Symptoms

The following list includes the most common signs and symptoms in people with epithelioid sarcoma (ES). 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 also does not include every symptom or feature that has been described in this condition.

Some of the symptoms may include:[1][3]

  • Painless growth on the extremities
  • Break on the skin (ulceration)

Often people with epithelioid sarcoma have few or no other symptoms. ES typically occurs in young adults, but it can occur at any age. Males are more often affected than females. ES is an aggressive tumor and often comes back after treatment or spreads to other parts of the body. The long term outcome depends on how aggressive the tumor is. [3]

Cause

The exact cause of epithelioid sarcoma is unknown. About 30% of people have had a previous trauma at the site where the tumor grows, but it is unclear if this has any significance.[2][3]

Diagnosis

Epithelioid sarcoma is diagnosed based on a clinical examination and an examination of a piece of the tumor in the laboratory (biopsy).[1][3]

Treatment

Epithelioid sarcoma (ES) is usually treated with surgery to remove the tumor and surrounding tissue. In some cases, radiation and chemotherapy may be used. ES is an aggressive tumor and often grows back after surgical removal. It also has a high risk of spreading to other parts of the body (metastasis).[2][3]

Specialists who may be involved in the care of someone with ES include:

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.

  • Tazemetostat(Brand name: Tazverik) Manufactured by Epizyme, Inc.
    FDA-approved indication: January 2020, tazemetostat ( Tazverik) was approved for the treatment of adults and pediatric patients aged 16 years and older with metastatic or locally advanced epithelioid sarcoma not eligible for complete resection.
    National Library of Medicine Drug Information Portal

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

      • 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 Epithelioid sarcoma. Click on the link to view a sample search on this topic.

        References

        1. Thway K, Jones RL, Noujaim J, Fisher C.. Epithelioid Sarcoma: Diagnostic Features and Genetics. Adv Anat Pathol. 2016; 23(1):41-49. https://pubmed.ncbi.nlm.nih.gov/26645461.
        2. Touati N, Schöffski P, Litière S, Judson I, Sleijfer S et al. European Organisation for Research and Treatment of Cancer Soft Tissue and Bone Sarcoma Group Experience with Advanced/Metastatic Epithelioid Sarcoma Patients Treated in Prospective Trials: Clinical Profile and Response to Systemic Therapy. Clin Oncol (R Coll Radiol). 2018; 30(7):448-454. https://pubmed.ncbi.nlm.nih.gov/29550245.
        3. Needs T, Fillman EP. Cancer, Epithelioid Sarcoma. In: StatPearls. Treasure Island (FL): StatPearls Publishing. 2020; https://pubmed.ncbi.nlm.nih.gov/30422506/.
        4. Armah HB, Parwani AV. Epithelioid Sarcoma. Archives of pathology & Laboratory Medicine. 2009; 133:814-819. https://www.ncbi.nlm.nih.gov/pubmed/19415960. Accessed 9/13/2011.
        5. Xuang X, Nayar R, Zhou H. Primary adrenal gland epithelioid sarcoma: A case report and literature review. Diagn Cytopathol. 2019; 47(9):918-921. https://pubmed.ncbi.nlm.nih.gov/31087789.

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