The EHE Foundation

Cycle 1

Web:

Contact:

Epithelioid Hemangioendothelioma (EHE) is a rare cancer that belongs to the group of cancers called sarcomas. EHE is a vascular sarcoma. This cancer can occur anywhere in the body with the most common sites being the liver, lungs, and bone. Symptoms depend on where the cancer develops in the body.

Last updated 04/30/2026

Clinical

Disease Class

Cancer

Body Systems

Cardiovascular / Circulatory

Digestive

Endocrine

Hematopoietic / Lymphatic / Immune

Integumentary / Exocrine

Muscular / Skeletal

Renal / Urinary / Excretory

Reproductive

Respiratory

Organs

Blood

Brain

Connective tissue / joints

Ears

Heart

Intestines

Kidneys

Liver

Lungs

Lymph fluid, nodes, ducts, vessels

Muscles

Nose

Pancreas

Skin

Throat/pharynx

Known Genetic Link

No, the disease is not known to have a genetic basis

Causative Genes

None specified / unknown

Contributory Genes

None specified / unknown

Type of Inheritance

Not specified / unknown

Newborn Screening

Disease Mechanism(s)

Abnormal cell proliferation

Altered DNA repair mechanism

Cell signaling defects

Protein misfolding

Transcriptional regulation defect

Vascular/Angiogenesis Defects

mTOR pathways dysregulation

Age of Onset

Adolescence (12-17)

Adulthood (age 18-64)

Early childhood (age 1+-5)

Elderly (age 65+)

Infancy (age 0-1)

Middle childhood (6-11)

Average Age at Diagnosis

Adulthood (age 18-64)

Life Expectancy

Adulthood (age 18-64)

Affected Sex(es)

Female

Male

National Prevalence

101-1000

Global Prevalence

1001-10000

National Incidence

Less than 10

Global Incidence

Less than 10

Symptoms / Phenotypes

abdominal swelling

ascites

balance problems

bone break / fracture

breathing difficulties

cancer / carcinoma / tumor / malignancy, unspecified

fever

pain, abdominal

pleural effusion

skin redness and/or swelling

vomiting / nausea

weight loss

Biomarkers

Diagnostic

· WWTR1-CAMTA1 fusion gene; YAP1-TFE3 fusion gene, CD31, CD34, ERG

Monitoring

· GDF-15 in investigation

Prognostic

· loss of CDKN2A, elevated CRP

Therapeutic

· GDF-15 in investigation

Existing Therapies

Off-Label Drug Use

Therapies in Development

Immunotherapy

· 1, PDL-1 inhibitor

Repurposed drug

· 3, statins, mTOR inhibitors, CDK9 inhibitors

Small molecule therapy (novel small molecule drugs)

· 4+, TEAD inhibitors

Therapeutic Development Stages

In clinical trials (Phase I, II, III, or IV)

In preclinical development

In research/exploratory phase

Therapeutic Development Role

Access to registry or natural history study

Focus group participation or coordination

Funding

Meetings with regulators (e.g., FDA listening sessions, PFDD meetings)

Outcome measures development

Recruitment and outreach to patients

Recruitment and outreach to trial sites / physicians

Sample provision

Study material design and/or review (not protocol) — includes patient-facing materials such as informed consent

Study protocol design and/or review (includes selection of outcome measures)

Organizational & Research

Cell Lines

Cancer/tumor cells

Cell Lines, Institution

University of Iowa

Cell Lines, Involvement

Consulted

Funded

Own

Cell Lines, share

All our cell lines are freely available

Disease Model

Mouse

Disease Model, Involvement

Consulted

Disease Model, share

Organizational Challenges

Efficient collection of natural history data that is fit-for-purpose for regulatory submission and drug development, that does not rely on clinician scientists to fund and/or lead. And development of novel endpoints, outcomes assessments.

Clinical Trial Role

Focus group

Recruitment and outreach, patients

Recruitment and outreach, trial sites/physicians

Study protocol design, review

Clinical Trial Types

Phase 1

Phase 2

Biobank, Institution

Cleveland Clinic BioRepository (CC-BioR)

Biobank, Involvement

Consulted

Designed

Funded

Own

Center of Excellence, Institution

Memorial Sloan Kettering Cancer Center

Center of Excellence, Involvement

Consulted

Funded

Registry

Yes, we have a registry that we created

Data Collected, Registry

Electronic health records/electronic medical records

Longitudinal natural history data

Medication usage

Other

Patient contact info

Patient-reported data

Data Entered by, Registry

Patients

Platform, Registry

IAMRARE

Natural History Study

Yes, we have collaborated on a natural history study

Data Collected, Natural History Study

Clinical endpoints (outcomes)

Medication usage

Prospective data

Platform, Natural History Study

REDCap

FDA Patient Listening Session

FDA Patient-Focused Drug Development (PFDD) Program

ICD Codes

No, we do not have any ICD codes

Diagnostic Guidelines

Yes, we have guidance available on our website

Science Advisory Board Policies

Yes, willing to share SAB policies

Research Network Policies

Does not have a CRN

Patient Priority Survey

Research Roadmap

We don't have a Research Roadmap

None

Europe

North America

Oceania

Europe