Scientists know that most EHE tumors are caused by specific genetic changes called gene fusions. In most people with EHE, two genes, WWTR1 and CAMTA1, are abnormally fused. In a smaller number of cases, a different fusion involving YAP1 and TFE3 is present. In a recent review published in Critical Reviews in Oncology/Hematology, the authors bring together what scientists have learned about how these gene fusions change normal cell behavior and drive EHE tumor growth.

They describe how these fusion genes disrupt key cell signaling pathways that regulate cell growth, survival, and movement. When these pathways are overactive, tumors may become more aggressive or harder to treat. By studying EHE cells in the lab and in animal models, researchers are beginning to identify biological markers that may help predict how the disease behaves, as well as specific pathways that could be targeted with new treatments. New research must focus on identifying how the biology of aggressive and indolent forms of EHE differs to develop more effective therapies for patients.

Why this matters:

This review helps point the way toward more precise and effective therapies for EHE. While there are currently no treatments approved specifically for this disease, clearly defining the biology of EHE and identifying promising drug targets helps guide future research, clinical trials, and drug development. Turning these scientific insights into approved therapies will require coordinated efforts among researchers, clinicians, and patient advocacy groups working together to expand treatment options and improve outcomes for people living with EHE.