Overview
Epithelioid sarcoma is a rare type of soft tissue cancer (sarcoma) that most often develops in the hands, fingers, forearms, or feet of young adults. Unlike many other sarcomas, it tends to grow slowly and can initially look like a harmless lump, cyst, or non-healing wound, which often leads to delays in diagnosis. The tumor is made up of cells that look similar to epithelial cells (the cells that line the surfaces of your body) under a microscope, which is how it gets its name. There are two main forms of this disease. The classic or distal type usually appears in the arms or legs of younger patients, often as a firm, painless nodule under the skin. The proximal type tends to occur in older patients and affects deeper tissues in areas like the pelvis, groin, or trunk. The proximal type generally behaves more aggressively. A hallmark of epithelioid sarcoma is the loss of a tumor suppressor protein called INI1 (also known as SMARCB1), which helps doctors confirm the diagnosis. Treatment typically involves surgery to remove the tumor with wide margins, often combined with radiation therapy. For advanced or metastatic disease, the FDA-approved drug tazemetostat (Tazverik) targets the specific molecular pathway involved. Despite treatment, epithelioid sarcoma has a tendency to come back locally and can spread to lymph nodes and lungs, making long-term follow-up essential.
Key symptoms:
Firm, slow-growing lump under the skinPainless nodule on the hand, finger, forearm, or footA wound or ulcer that does not healLump that may be mistaken for a cyst or wartSwelling in the affected areaPain or tenderness as the tumor growsNumbness or tingling if nerves are affectedRestricted movement of a nearby jointSwollen lymph nodes near the tumorDeep mass in the pelvis, groin, or trunk (proximal type)Unexplained weight loss in advanced diseaseShortness of breath if cancer spreads to the lungs
Sporadic
Usually appears on its own, not inherited from a parent
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
4 eventsMemorial Sloan Kettering Cancer Center — PHASE2
Haihe Biopharma Co., Ltd. — PHASE1, PHASE2
Kantonsspital Winterthur KSW
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableTazverik
Adults and pediatric patients aged 16 years and older with metastatic or locally advanced epithelioid sarcoma not eligible for complete resection.
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Epithelioid sarcoma.
Community
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Start the conversation →Latest news about Epithelioid sarcoma
Disease timeline:
New recruiting trial: Evaluate the Safety and Clinical Activity of HH2853
A new clinical trial is recruiting patients for Epithelioid sarcoma
New recruiting trial: An Observational Study on Epithelioid Sarcoma
A new clinical trial is recruiting patients for Epithelioid sarcoma
New recruiting trial: A Study of Pembrolizumab in People With Ultra-Rare Sarcomas
A new clinical trial is recruiting patients for Epithelioid sarcoma
New recruiting trial: Swiss Sarcoma Network: Prediction Model for Patient Selection in Sarcoma Care
A new clinical trial is recruiting patients for Epithelioid sarcoma
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type of epithelioid sarcoma do I have — classic (distal) or proximal — and how does that affect my outlook?,Has the tumor been tested for INI1/SMARCB1 loss to confirm the diagnosis?,Can the tumor be completely removed with surgery, and what will the impact be on my function?,Do I need radiation therapy after surgery, and what are the side effects?,Am I a candidate for tazemetostat or any clinical trials?,How often will I need follow-up scans, and for how long?,Should I be seen at a specialized sarcoma center for a second opinion?
Common questions about Epithelioid sarcoma
What is Epithelioid sarcoma?
Epithelioid sarcoma is a rare type of soft tissue cancer (sarcoma) that most often develops in the hands, fingers, forearms, or feet of young adults. Unlike many other sarcomas, it tends to grow slowly and can initially look like a harmless lump, cyst, or non-healing wound, which often leads to delays in diagnosis. The tumor is made up of cells that look similar to epithelial cells (the cells that line the surfaces of your body) under a microscope, which is how it gets its name. There are two main forms of this disease. The classic or distal type usually appears in the arms or legs of younger
How is Epithelioid sarcoma inherited?
Epithelioid sarcoma follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Epithelioid sarcoma typically begin?
Typical onset of Epithelioid sarcoma is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Epithelioid sarcoma?
Yes — 4 recruiting clinical trials are currently listed for Epithelioid sarcoma on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Epithelioid sarcoma?
25 specialists and care centers treating Epithelioid sarcoma are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Epithelioid sarcoma?
1 patient support program are currently tracked on UniteRare for Epithelioid sarcoma. See the treatments and support programs sections for copay assistance, eligibility, and contact details.