Epithelioid Hemangioendothelioma (EHE)

What is epithelioid hemangioendothelioma?

Epithelioid hemangioendothelioma (EHE) is a form of vascular sarcoma, beginning in the cells of the blood vessels. It tends to appear in the lungs, bones, and livers but can affect many other places in the body. 

Less than one of every million people is diagnosed with this rare cancer, and it affects young females more than others. 

What are the symptoms of epithelioid hemangioendothelioma?

Symptoms can vary from patient to patient, depending on the location of the tumor. It is typically a slow-growing cancer, meaning affected individuals may not notice any symptoms at first. Symptoms include: 

• Pain and swelling
• Weight loss
• Skin nodules that are discolored
• Issues with movement, such as problems walking
• Enlarged organs
• A mass in the area of the tumor

What causes epithelioid hemangioendothelioma?

A translocation called the WC fusion causes this cancer. It creates a fusion gene, which then produces a protein that is responsible for the development of EHE. About 90% of EHE patients have this mutation. The other 10% have YAP1-TFE3 fusions, which result in very similar morphologic features. 

How is epithelioid hemangioendothelioma diagnosed?

A diagnosis typically comes after one notices the characteristic symptoms. Doctors will order imaging tests, such as CT scans, PET scans, X-rays, or MRIs. A biopsy may also be necessary. 

What are the treatments for epithelioid hemangioendothelioma?

Treatment varies depending on the severity and location of the tumor. Surgery is often the first option, but doctors may use chemotherapy, targeted therapies, and radiation. If the cancer is very slow growing, the doctor may choose to just monitor the tumor. 

Where can I find out more about epithelioid hemangioendothelioma?

• • • The EHE Foundation
    • St. Jude Children’s Research Hospital
    • National Cancer Institute