What we know
Tumours associated with EHE can arise anywhere in the body, but have a tendency to present in the liver, lungs, bones, lymph nodes, skin and soft tissues and often involve multiple sites (patients present with widespread tumours, commonly called multifocal). EHE has an indolent (passive) state, a progressive (slow growing) state and an aggressive state (rapid growth and destructive behaviour). EHE can quickly change from the indolent state into the progressive/aggressive states with little or no warning. We know there are some drug treatments that can have positive effects in some patients, but not all.
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, progressive or aggressive states, or what triggers the change from indolent to progressive/aggressive. The natural history of the disease is not fully understood, which means it is currently not possible for patients to forecast 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.
The discovery in 2011, by Dr Rubin’s team, of the specific WWTR1-CAMTA1 gene fusion associated with 90% of EHE tumours, and which is believed therefore to be disease-defining, was a major 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.
In 2017, Dr Rubin’s team were also able to identify and refine the TAZ-CAMTA1 fusion protein that results from the WWTR1-CAMTA1 gene fusion, and is believed to be key in driving the development and progression of EHE.
Dr Rubin is now building on this work with his focused EHE research programme. For more detail of Dr Rubin's research, 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, Boston Children’s Hospital, the Broad Institute, and the Translational Genomics Research Institute (TGen).
In addition to these USA-based groups, Dr Rubin has also been instrumental in helping to progress research internationally. His collaboration has helped in the identification and progress of the UK’s two EHE-dedicated research projects, one at the Bateson Centre at the University of Sheffield and one at the Department of Developmental Biology and Medicine at the University of Manchester.
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 researchers regarding other research streams that may be relevant or applicable to EHE. In particular, our sister foundation in the USA announced in August 2019 the establishment of an International Centre of EHE Excellence at the Memorial Sloan Kettering Cancer Institute, funded by a generous gift received from a private donor. This project will be looking to progress EHE research on a number of different fronts while also looking to develop enhanced EHE treatment protocols.
The EHE group is also in advanced discussions regarding further EHE research in Europe, to be potentially undertaken by key sarcoma centres working in a collaborative programme. It is this growing interest in EHE and the associated international collaborations that is one of the core deliverables from the EHE foundations working closely together in an integrated international programme.
In the UK the charity also reached agreement in early 2019 regarding the establishment of an EHE Tissue Manager and EHE biobank within The Joint Royal Marsden-ICR Sarcoma Research Unit.