For many patients and families, Ewing sarcoma is a disease they first learn about at the time of diagnosis. What was once an unfamiliar term quickly becomes central to their lives.
Understanding the disease is an important first step. Here, we explain what Ewing sarcoma is, how it presents, how physicians diagnose it and how it is treated today.
What is Ewing sarcoma?
Ewing sarcoma is a rare type of cancer that develops as a malignant tumor in the bones or soft tissue surrounding them. Most cases are diagnosed in individuals between the ages of 10 and 20, though it can affect people of any age.
Where does Ewing sarcoma develop?
Ewing sarcoma can originate anywhere in the body, but it most often affects long bones of the arms and legs, as well as the pelvis, ribs and spine.
Less commonly, it develops in the surrounding soft tissue. This is known as extraosseous Ewing sarcoma.
What causes Ewing sarcoma?
The exact cause of Ewing sarcoma is not fully understood, but researchers know that it involves specific genetic changes within the tumor cells. These changes happen spontaneously, most likely after birth, and are not inherited.
In approximately 85% of cases, parts of chromosomes 11 and 22 switch places, causing two genes, EWSR1 and FLI1, to join together and form what’s called a fusion gene. This changes how the cells function, leading to uncontrolled cell growth that can result in a cancerous tumor.
In the remaining cases, EWSR1 typically joins with other related genes in the ETS family, most commonly ERG. While the specific genes involved can vary, these genetic changes are a defining feature of Ewing sarcoma.
What are the symptoms of Ewing sarcoma?
Symptoms of Ewing sarcoma can vary depending on the location and size of the tumor. Common symptoms may include:
- Pain and swelling near the tumor site
- Bone pain that may worsen at night or with activity
- Fever
- Fatigue
- Unexplained bone fractures caused by weakened bone
These symptoms can also be caused by injuries or other conditions and do not necessarily indicate Ewing sarcoma. Persistent or unexplained symptoms should be evaluated by a healthcare professional.
How is Ewing sarcoma diagnosed?
Diagnosing Ewing sarcoma typically includes several steps. A healthcare provider may begin with a physical exam and imaging tests to look more closely at the affected area. These may include:
- X-rays
- Magnetic resonance imaging (MRI)
- Computed tomography (CT) scans
- Positron emission tomography (PET) scans
- Bone scans
A biopsy is needed to confirm a diagnosis of Ewing sarcoma. During a biopsy, a small tissue sample is removed from the tumor and examined for cancer cells. The sample may also be analyzed for characteristic genetic changes that can help determine whether Ewing sarcoma is present.
Once a diagnosis is confirmed, additional testing may be used to determine whether the cancer has spread to other parts of the body.
What are the stages of Ewing sarcoma?
Unlike many cancers, Ewing sarcoma is not typically described using numbered stages from I to IV. Instead, it is classified as localized, metastatic or recurrent.
Localized Ewing sarcoma is limited to the area where it began and nearby tissues, without spreading to distant parts of the body.
Metastatic Ewing sarcoma has spread from the original tumor to other parts of the body. The most common sites of metastasis are the lungs, other bones and bone marrow. Less commonly, it may spread to the lymph nodes or other organs.
Recurrent Ewing sarcoma means the cancer has returned after treatment. It may return in or near the original tumor site, or in another part of the body.
How is Ewing sarcoma treated?
Treatment for Ewing sarcoma typically involves a combination of chemotherapy, surgery and/or radiation therapy. The specific treatment plan depends on several factors, including the location and size of the tumor, whether the cancer has spread and how it responds to treatment.
Chemotherapy is often the first step and works throughout the body to target cancer cells, including those that may not be visible on imaging. After initial chemotherapy, surgery may be used to remove the primary tumor when feasible. Radiation therapy may be used instead of surgery or in combination with surgery to help control the cancer at its original site.
Advancing Ewing sarcoma research
A Ewing sarcoma diagnosis can bring many questions, and understanding the disease is only a starting point. Around the world, researchers, clinicians, patients, families and advocates are continuing to learn more about Ewing sarcoma and work towards better treatments and outcomes.
At Ewing Sarcoma Institute, we’re committed to bringing this global community together, connecting expertise and resources to address critical research challenges and help discoveries reach the patients and families who need them.
If you or a loved one has been diagnosed with Ewing sarcoma, the most important step is finding the right care team. Explore Ewing Sarcoma Institute’s Sarcoma Treatment Centers map and patient resources to learn more.
Summary:
- Ewing sarcoma is a rare cancer that develops in bones or surrounding soft tissue.
- Symptoms vary and can sometimes resemble injuries or other conditions.
- A biopsy is needed to confirm a diagnosis.
- Treatment typically combines chemotherapy with surgery and/or radiation therapy.
- Seeking care at a center experienced with Ewing sarcoma is strongly recommended.
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