What we know
Tumours associated with EHE can arise in the liver, lungs, bones, lymph nodes, skin and soft tissues and often involve multiple sites (patients present with widespread tumours). EHE has an indolent (slow-growing) state and an aggressive state, when tumors grow rapidly and exhibit destructive behaviour. EHE can quickly change from the indolent state into the aggressive state with little or no warning. We know there are some drug treatments that can have positive effects. But not in all cases, and we don’t yet know why.
What we don’t know
We do not yet know what biological and physiological factors predispose a person to EHE, what dictates whether a patient will suffer from the indolent or aggressive state, or what triggers the change from indolent to aggressive. The natural history of the disease is not fully understood, which means it is currently not possible to forecast for patients what they can expect at any stage. We don’t yet know why some drug regimens work for certain patients and not for others. There is a huge amount we need to discover and understand about this disease to treat it effectively.
A key discovery
The discovery in 2011 of the specific gene fusion associated with EHE tumours was a very significant breakthrough that is helping with the development of cell-based biological EHE models. These cell-based models will open up research that was not previously possible. Dr Rubin is now building on this work with a comprehensive EHE research programme. See the PROGRAMME DETAILS page in this section.
Dr Rubin’s collaborative programme at the Cleveland Clinic will hopefully also lead to other EHE research being done in other research establishments around the world. Dr Rubin has undertaken a number of collaborations, including with researchers at Cornell University Medical College, MD Anderson Cancer Centre, The University of Michigan, Baylor Medical College, the University of Washington, the Mayo Clinic, the French Sarcoma Group, Boston Children’s Hospital, the Broad Institute, and the Translational Genomics Research Institute (TGen). He is also hoping to establish collaborations with colleagues at the Royal Marsden Hospital in London. Dr Rubin is open to and encourages collaboration to increase expertise and ensure that research is not being unnecessarily duplicated, that results are shared, and to ensure the greatest progress possible is made from every pound or dollar of research funding received and spent. Such collaboration is a core principle that the EHE Rare Cancer Charity (UK) would expect within any research we are funding.
In addition to the collaborative research programme being undertaken by Dr Rubin, EHERCC and the EHE Group are also continuing dialogue with research facilities and commecial groups with regard to other research streams that may be relevent or applicable to EHE. For an update on these projects, please see the RESEARCH UPDATE note contained within the RESOURCES section of this website.