Epithelioid Hemangioendothelioma (EHE) in Children, Adolescents, and Young Adults

What is EHE?

Epithelioid hemangioendothelioma (EHE) is an ultra-rare and unpredictable vascular sarcoma that most commonly affects adults and slightly more women than men. This rare cancer is found in less than 1 in a million people and is exceedingly rare in children. Like anyone diagnosed with EHE, children require expert care with a focus on pediatrics and young adults due to the potential long-term effects of the disease and treatment on the growing body.

Signs and Symptoms

EHE can occur anywhere in the body and most commonly appears in the liver, lungs, and bones. It can arise as one or more lesions in the same body part or multiple body parts. Many people have no symptoms of EHE and the disease is found by accident as part of another medical assessment. The most common symptoms are a bump or mass that can be seen or felt, pain, abdominal discomfort, and less common in children, weight loss.

Biological Causes of EHE

EHE is identified by two unique gene fusions or alterations: the WWTR1-CAMTA1 (WC or TAZ-CAMTA1) fusion causes approximately 90% of EHE cases and the YAP1-TFE3 fusion is found in about 10% of EHE cases. Other very rare genetic alterations have also been reported. With an EHE diagnosis, it is strongly recommended to have an expert pathologist evaluate the biopsy and confirm the diagnosis by molecular testing to rule out other cancers.

Diagnosis and Treatment

Diagnosing EHE often involves a combination of imaging studies or scans, and expert pathology review to identify the characteristic fusion genes. Different scans may be used to complement one another and can vary based on suspected organ involvement. In general, any initial scans at diagnosis should be continually used to monitor the disease going forward.

In pediatric and young adult patients, balancing effective treatment with minimizing long-term side effects is crucial. Given the rarity of EHE, treatment decisions are typically individualized and ideally involve a multidisciplinary team of pediatric and young adult specialists in oncology, surgery, and other specialties. Pediatric oncologists who specialize in rare diseases and vascular tumors can be asked to consult on these patients to confirm the diagnosis.

Active surveillance (also called wait-and-watch) is the initial recommended management strategy for people without any symptoms and those who are not ideal surgical candidates. EHE treatment approaches vary based on patients’ symptoms, tumor changes, and other variables. For a full overview of treatment approaches in EHE, please refer to the EHE Consensus Paper for a more thorough description.

We do not have evidence that pediatric/young adult EHE behaves differently than adult EHE, and more research is needed to investigate EHE in the pediatric/young adult population.

Future Directions

With ongoing research into the molecular biology of EHE, new targeted therapies for adults, such as those focusing on the Hippo signaling pathway, are on the horizon. Also, multiple efforts are ongoing to repurpose FDA-approved drugs for the treatment of EHE. These advancements aim to improve outcomes for all people diagnosed with EHE.

Your Next Steps

If a young person in your life has been diagnosed with EHE, we recommend you take these three steps:

1. Find a Sarcoma Expert.

Pediatric & Young Adult Specialists:

Denise M. Adams, MD, Pediatric Oncology, Children's Hospital of Philadelphia
Sally Cohan-Cutler, MD, Pediatric Oncology, Children’s Hospital of Philadelphia
Damon R. Reed, MD, Pediatric Oncology, Memorial Sloan Kettering Cancer Center
Use the Provider Directory to find additional EHE experts.

2. Learn more about EHE.

For more information on EHE in pediatric patients, explore the following resources:

3. Stay connected with us.

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