Gene 'fusion' linked to aggressive brain cancer

In collaboration with the Press Association

A small number of cases of glioblastoma - an aggressive brain tumour - are caused by DNA damage that joins two particular genes together, according to a US study published in the journal Science.

The finding, by researchers at Columbia University Medical Centre, also showed that chemicals targeting cells that contain this so-called 'gene fusion' can dramatically slow the growth of glioblastomas in mice.

The fusion of the two genes - known as FGFR and TACC - was seen in just three of 97 tumours studied.

So any therapy targeting this genetic fault would likely only be effective in only a small minority of glioblastoma patients.

Commenting on the finding, Cancer Research UK's Dr Laura Bell said the study wouldn't be applicable to all people with glioblastoma, but could be the first vital step to a treatment for people with few other options.

"It's particularly interesting that the researchers found a type of fault called a 'fusion gene' in some glioblastomas", she said, "as we know from experience that these faults can be targeted by drugs.

"For example, the drug imatinib, targets a fusion gene in certain leukaemias, and this has transformed the outlook for people with this form of the disease."

Study leader Professor Antonio Iavarone and his team carried out detailed genetic analyses of glioblastoma cells isolated from nine patients and then grown in the lab, and found the fusion between FGFR and TACC.

They then confirmed the finding by looking for the fusion in samples from 97 more glioblastoma patients.

"From a clinical perspective, we have identified a druggable target for a brain cancer with a particularly dismal outcome," said Professor Iavarone.

"From a basic research perspective, this discovery has implications for the understanding of glioblastoma as well as others types of solid tumours."

The researchers also found that introducing the FGFR-TACC fusion gene into the brain cells of healthy mice led to the development of aggressive brain tumours in 90 per cent of the animals.

Professor Peter Collins from the University of Cambridge, said the research was “interesting and offers the possibility of targeted treatment in cases with the fusion”.

Professor Collins, who is working as part of Cancer Research UK’s Stratified Medicine Programme, added: “It is only the second significant fusion gene found in a brain tumour.

“With more and more of these ‘next-generation’ gene sequencing projects reporting over the coming years, more drug targets will be identified.”

Copyright Press Association 2012


  • Singh, D et al. Transforming Fusions of FGFR and TACC Genes in Human Glioblastoma. Science (2012) DOI: 10.1126/science.1220834