Research Projects & Initiatives

Research is the highest priority toward our mission to find effective treatments and ultimately a cure for EHE. The EHE Foundation funds studies for promising and effective research, some of which is sponsored and facilitated by The Foundation and some is enabled through Foundation grants or partnerships. We rely on the generous contributions of donors and volunteers, together with the time and talent of numerous researchers and clinicians to guide our determinations on the most promising research to pursue. If you have a research idea please visit our Research Grants Program for more information and to connect with our team.

Current Projects & Initiatives

Patient Registry & Natural History Study

The EHE Patient Registry is currently in development. This initiative is essential to learn more about EHE diagnosis, treatment, disease progression, and disease-related symptoms directly from patients. Please stay alert for more details on how to participate in this project later in 2021.

EHE Biobank

The EHE Biobank is an open, ongoing collection of tissue samples and other biospecimens, including blood and bodily fluids donated by people with EHE. The Biobank has been developed by The EHE Foundation with the generous support of private donations and grants to accelerate EHE research. Click here to learn more about participating.

Retrospective Chart Review Study

In 2019, The EHE Foundation initiated a global multi-institutional retrospective chart review of EHE patients in order to describe EHE biological behavior, treatment utilization, and outcomes across various EHE locations. This is the first large-scale EHE study which will further inform clinicians and researchers for future treatment decisions and research initiatives.

NCI MyPart

The EHE Foundation is excited to announce a partnership with the MyPART network of NCI’s Rare Tumors Initiative (RTI) – which focuses on accelerating the translation of potential new therapies for rare tumors by bringing together patients, clinicians, researchers, and patient advocates. Click here for the latest MyPART news.

Rare Cancer Dependency Map at The Broad Institute

The EHE Foundation is collaborating with the Rare Cancer Research Institute and The Broad Institute to further the development of an EHE cell line. Cell lines are the main model to study cancer behavior and response to various therapies. Cell line development begins with donated EHE tissue from patients’ surgeries. Find out how you can donate your tissue to the EHE Biobank and contribute to this and other research

Grants Awarded

Evaluation of Cytokines and Hormones Biomarkers for EHE, Principal Investigator: Sylvia Stacchiotti, MD and Nadia Zaffaroni, PhD of Fondazione IRCCS Instituto Nazionale dei Tumori, Milan, Italy and Paul Huang, MD, Institute of Cancer Research, London, England

Award Amount: $40,000 (US Foundation partnership with EHE Group funding); Award Year: 2021

Research Objectives: To assess 1) the profiles of circulating cytokines, hormones (and miRNAs), and ii) the ERα, Erβ and GPER expression and the YAP/TAZ activation in tumor tissues, as a function of the clinical course of the disease. To this end the analysis will be conducted on the whole study patient population compared to healthy controls, and by stratifying EHE patients who will enter the study in 3 subgroups according to disease behavior (non-growing disease, slow- growing disease, highly aggressive disease with evidence of pleural effusion and systemic symptoms), and 2) the identification and validation of novel biomarkers to inform patient management (prognosticators and predictors of response to medical agents) as well as potential therapeutic targets. 

YAP-TFE3 GEMM Initiative, Principal Investigator: Brian Rubin, MD, PhD, Cleveland Clinic, Cleveland, OH

Award Amount: $10,000; Award Year: 2020

Project Overview: This project is initiated with the passion of EHE patient advocates, Lael Bellamy & Lynne Heckman Rabinowitz, to develop Foster’s mouse, a YAP-TFE3 genetically engineered mouse model (GEMM). Through generous gifts and contributions, Dr. Rubin will initiate the development of a YAP-TFE3 GEMM for EHE and also to provide insights into other cancer research. It is estimated that 90% of EHE tumors contain a WWTR1-CAMTA1 gene fusion, and the other 10% contain a YAP1-TFE3 gene fusion. This research will aim to further research in this very rare gene fusion. 

Development and Analytical Validation of a Circulating Cell-Free DNA (cfDNA) Assay Specific for Epithelioid Hemangioendothelioma (EHE), Principal Investigator: Minetta Liu, MD, Mayo Clinic, Rochester, MN

Award Amount: $60,000; Award Year: 2020

Research Objectives: The ability to use serial blood-based monitoring to identify clinically relevant disease recurrence and/or progression should provide clinicians with a means by which to intervene when a true impact on survival is achievable. This research aims to develop and validate a highly specific cfDNA based assay to detect WWTR1-CAMTA1 and YAP1-TFE3 fusions in patients with a tissue biopsy confirmed diagnosis of EHE.

Identification of TAZ-CAMTA1 Regulators, Principal Investigator: John Lamar, PhD, Albany Medical College, Albany, NY

Award Amount: $20,000 (US Foundation partnership with EHE Group funding); Award Year: 2019

Research Objectives: This research aims to test the hypothesis that the TAZ-CAMTA1 fusion protein is subject to regulation by Hippo-pathway independent mechanisms that could be exploited to inhibit TAZ-CAMTA1 function and treat EHE. The research will test the hypothesis using the following aims: 1) identify regulators of the TAZ-CAMTA1 fusion protein and assess their therapeutic potential, and 2) establish model systems to assay TAZ-CAMTA1 function in in vitro and in vivo and use to test therapeutic potential of candidate TAZ-CAMTA1 regulators. 

Molecular and Immune Characterization of EHE Clinical Subtypes, Principal Investigator: Christina Antonescu, MD, Memorial Sloan Kettering Cancer Center, New York, NY

Award Amount: $120,000; Award Year: 2019

Research Objectives: A comprehensive study of EHE genetics and the tumor microenvironment. The study aims to map intra-tumoral molecular differences between various subtypes of EHE, as well as variations in immune cells infiltrating and surrounding EHE tumors. The objective of this research is to identify potential targets for various types of treatments including immunotherapy. Publications resulting from this grant include:  

  1. Prognostic stratification of clinical and molecular epithelioid hemangioendothelioma subsets. Rosenbaum E, Jadeja B, Xu B, Zhang L, Agaram NP, Travis W, Singer S, Tap WD, Antonescu CR. Modern Pathology. 2020 Apr;33(4):591-602.  
  2. Variant WWTR1gene fusions in epithelioid hemangioendothelioma-A genetic subset associated with cardiac involvement. Suurmeijer AJH, Dickson BC, Swanson D, Sung YS, Zhang L, Antonescu CR. Genes Chromosomes Cancer. 2020 Jul;59(7):389-395.