Genetic fault behind rare cancer uncovered

In collaboration with the Press Association

Scientists have developed a new test to diagnose a rare cancer that usually affects the circulatory system after uncovering the genetic fault that causes most cases of the disease.

Epithelioid hemangioendothelioma (EHE) is very rare and makes up less than one per cent of all diagnosed cancers. It affects cells of the circulatory system, in particular in the liver and lungs.

In research published in the journal Science Translational Medicine, researchers have identified a genetic fault that causes the condition.

The fault was found in 42 of 47 EHE tumours examined in the study. The group didn't find it in any of the 118 non-EHE vascular tumours they looked at.

The team found that a unique protein was created as a result of an abnormal rearrangement of genes - called 'translocation' - between chromosome one and three.

Such chromosome translocations have been proven to drive some other cancers, such as chronic myeloid leukaemia.

In the case of EHE, chromosome one and three exchange DNA fragments to create a unique fused gene, which in turn creates a unique protein.

This resulting protein is thought to be the cause of EHE.

Uncovering such faults is crucial to the understanding of how cancer cells work and in helping researchers to target them with specific drugs.

Brian Rubin, from Cleveland Clinic's Pathology and Laboratory Medicine Institute and Lerner Research Institute in the US, said: "This finding is the beginning of a new era for patients with EHE."

It is also thought the new research techniques used in this study could be applied to other rare cancers, which are traditionally difficult to study because of a lack of tissue samples.

Oliver Childs, senior science information officer at Cancer Research UK, said: "This is exciting work. Until now, it's been difficult to accurately diagnose this rare cancer because under the microscope it closely resembles some other cancers, and even some healthy tissues. Thanks to this research, scientists now have a tool to detect the gene fault that causes the disease.

"This type of genetic fault - called a translocation - is also behind a form of leukaemia called chronic myeloid leukaemia, or CML. Knowledge of the translocation in CML led to the development of imatinib (Glivec), a drug that revolutionised the disease's treatment. So as well as improving the way this disease is diagnosed, this new work could even lead to new ways to treat people with epithelioid hemangioendothelioma."

Copyright Press Association 2011


  • Tanas, M. R. et al. Identification of a Disease-Defining Gene Fusion in Epithelioid Hemangioendothelioma. Science Translational Medicine Vol 3 Issue 98 98ra82