Symptoms and diagnosis of Ewing sarcoma

The most common clinical signs that lead to a diagnosis of Ewing sarcoma are pain (often bone pain) or the appearance of swelling. 
Patients are typically referred to Institut Curie by pediatric or surgical departments across Greater Paris. If an Ewing sarcoma is suspected clinically or radiologically, Institut Curie’s interventional radiology team may perform a biopsy under local or general anesthesia, guided by ultrasound or CT scan.

Diagnosis is both histological and molecular. Ewing sarcoma is characterized by a specific EWSR1-FLI12 gene fusion transcript, first identified over 30 years ago by a research team at Institut Curie.

Once the histological diagnosis is confirmed, an extension work-up is conducted to determine whether the disease is localized or metastatic. This includes at a minimum a chest CT scan and a PET-CT, which detects precise areas of abnormal cellular activity throughout the body.

Some young patients may also be enrolled in the CUSTOM pathway (Curie Sarcomas and Complex Bone and Soft Tissue Tumors), coordinated by Institut Curie’s pediatric radiology department. Its goal is to ensure rapid diagnosis for children, adolescents, and young adults with suspicious lesions similar to a sarcoma.