Epithelioid Sarcoma

What is epithelioid sarcoma?

Epithelioid sarcoma (ES) is a rare subtype of soft tissue sarcoma. It usually starts as a lump in your forearms, hands, fingers, lower legs or feet — though it can appear in other areas. Eventually, more than one lump may develop, but this isn’t always the case. In some instances, you may also have open wounds (ulcerations) on your skin above the lumps.

Epithelioid sarcoma is slow growing. A person can have this type of cancer for months (or even years) before noticing any symptoms.

Another name for this condition is epithelial sarcoma. There are two types: distal and proximal.

What are the types of epithelioid sarcomas?

• Distal type is the most common form of epithelioid sarcoma. Distal type ES affects your extremities, such as your hands, feet, lower arms and lower legs.
• Proximal type is the rarest form of ES. Proximal type epithelioid sarcoma (PES) affects areas closer to the center of your body. This can include your chest, abdomen, armpits, genitals (penis or vulva) or head and neck. Proximal type epithelioid sarcoma is typically more aggressive than distal type ES. As a result, it’s usually more challenging to treat.

How common is epithelioid sarcoma?

Epithelioid sarcoma is rare. To put it in perspective, soft tissue sarcomas (which include more than 50 subtypes) account for approximately 1% of all adult cancers. Epithelioid sarcoma accounts for about 1% of all soft tissue sarcomas every year in the U.S.

Experts believe there are fewer than 1,000 people in the U.S. who currently have ES.

Who does epithelioid sarcoma affect?

Distal type epithelioid sarcoma (the most common type) typically affects teenagers and young adults. Proximal type epithelioid sarcoma (the rarer type) mainly affects adults.

What are the symptoms of epithelioid sarcoma?

In the early stages, ES may not cause symptoms. As the tumor continues to grow, you may begin to notice these epithelioid sarcoma symptoms:

• A new lump or area of swelling (which can range from small to large).
• Open wounds (ulcerations) on your skin above the lump.
• Pain (if the tumor puts pressure on muscles or nerves).
• An existing lump that increases in size.

What causes epithelioid sarcoma?

Healthcare providers aren’t exactly sure what causes epithelioid sarcoma. But experts know it’s related to an abnormality of the SMARCB1 gene (which tells your body how to make protein). This gene mutation typically occurs during life. In other words, it’s usually not something you’re born with.

Like most soft tissue sarcomas, ES often develops for no apparent reason. People who’ve received radiation therapy for other cancers in the past have a slightly raised risk for epithelioid sarcoma.

Experts have also discovered that people who are born with certain family cancer syndromes have a slightly higher risk of developing epithelioid sarcoma. These family cancer syndromes include:

• Gardner syndrome.
• Neurofibromatosis Type 1 and Type 2.
• Retinoblastoma.
• Li-Fraumeni syndrome.
• Tuberous sclerosis complex.
• Werner syndrome.
• Gorlin syndrome.

How does epithelioid sarcoma spread?

In most cases, ES doesn’t spread (metastasize) to other areas of your body. But if it does spread, the most common areas are your lymph nodes, lungs and bones.

How is epithelioid sarcoma diagnosed?

A healthcare provider will run several tests to diagnose ES, which may include:

• A physical examination.
• Biopsy.
• Blood tests for cancer.
• Magnetic resonance imaging (MRI).
• Computed tomography (CT) scans.
• Positron emission tomography (PET) scans.

How is epithelioid sarcoma treated?

Your healthcare provider will choose a treatment based on the size and location of your tumor, whether it has spread to other areas of your body, your body’s healing capacity and your personal preferences.

Surgery

Surgical removal of the tumor is the most common epithelioid sarcoma treatment. If the cancer has spread to nearby lymph nodes, your surgeon may remove those as well.

Radiation therapy

This common cancer treatment uses high-powered X-rays to kill cancer cells. Your healthcare provider may use radiation therapy before surgery to shrink the tumor, or after surgery to kill any remaining cancer cells.

Chemotherapy

If the cancer has spread to other areas of your body, your healthcare provider may recommend chemotherapy. This treatment uses drugs to kill cancer cells. Providers most often give chemotherapy drugs intravenously (through a vein). But they may also give the drugs to you orally (in pill or liquid form), topically (on your skin) or as an injection (shot).

Targeted drug therapy

Targeted drug therapy alters (changes) genes and proteins that control how cancer cells grow and divide. There are several drugs used in targeted therapy. Your healthcare provider can tailor a specific treatment plan for your unique needs. Tazemetostat is a common drug used in the treatment of ES. Providers use it to target cancer cells that surgery can’t fully remove.

Can I prevent epithelioid sarcoma?

Because ES usually develops for no apparent reason, you can’t prevent it.

What can I expect if I have epithelioid sarcoma?

Epithelioid sarcoma is treatable, especially when detected early. Your healthcare provider will run several tests to determine how big the tumor is and whether it has spread to other areas of your body. Then, they’ll design a personalized treatment plan.

You’ll likely have a team of healthcare providers treating you. This team may include:

• Primary care physician, or the main doctor who cares for your overall health.
• Oncologists, who specialize in treating people with cancer. This includes orthopaedic oncologists, oncology surgeons and doctors who administer cancer treatments, such as chemotherapy and radiation therapy.
• Dermatologists, who specialize in diagnosing and treating skin conditions.
• Pathologists, who interpret your bloodwork and biopsy results.
• Therapists, who can help you deal with the emotional aspect of your care.

Is epithelioid sarcoma curable?

The only way to cure ES is to completely remove the tumor. But complete removal isn’t possible in all cases.

If a surgeon is unable to completely remove a tumor, they’ll likely recommend a combination of treatments to manage your condition. Because ES is slow growing, many people with the disease can still lead long, fulfilling lives.

What is the survival rate of epithelioid sarcoma?

Many research studies have reported on epithelioid sarcoma survival rates through the years. But because the disease is so rare, the numbers vary significantly. The five-year survival rate for epithelioid sarcoma ranges from 25% to 92%, depending on which study you read.

When should I see my healthcare provider?

Anytime you notice an abnormal lump somewhere on your body, you should see a healthcare provider. People with ES most commonly develop lumps on their forearms, hands, fingers, lower legs or feet. But tumors can appear anywhere in your body.

What questions should I ask my healthcare provider?

If you or a loved one receives an epithelioid sarcoma diagnosis, here are some questions you may want to ask your provider:

• Where is the tumor located?
• Do I only have one tumor or are there more?
• Has the cancer spread to other areas of my body?
• What treatment do you recommend?
• How long will my treatment take?
• How will I feel while undergoing treatment?
• Are there resources where I can learn more information?

A note from Cleveland Clinic

If you’ve received an epithelioid sarcoma (ES) diagnosis, it’s normal to feel scared, angry or frustrated. Talk to your healthcare provider about what to expect before, during and after your treatment. You may also want to talk to a counselor or therapist. These healthcare providers can help you process the complicated emotions and feelings that may come up. Consider joining a local or online support group so you can talk with others who are going through the same thing.