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Disease Profile
Epithelioid sarcoma
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.
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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.
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.
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.
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.
Not applicable
Summary
Epithelioid
Symptoms
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
Treatment
Specialists who may be involved in the care of someone with ES include:
Oncologist - Radiation oncologist
- Surgeon
Pathologist
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
-
The Liddy Shriver Sarcoma Initiative
17 Bethea Drive
Ossining, NY 10562-1620
Telephone: 914-762-3251
Website: https://sarcomahelp.org/
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.
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
- 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.
- 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.
- Needs T, Fillman EP. Cancer, Epithelioid Sarcoma. In: StatPearls. Treasure Island (FL): StatPearls Publishing. 2020; https://pubmed.ncbi.nlm.nih.gov/30422506/.
- 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.
- 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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