Genetic mutations associated with medulloblastoma relapse
A study led by ICR researchers discovered the unique genetic paths that the childhood brain tumour medulloblastoma follows when the disease comes back.
Professor Louis Chesler and colleagues at the ICR worked with researchers at Newcastle University to identify genetic mutations associated with relapse of the childhood brain tumour medulloblastoma.
Our researchers took samples from 29 patients’ tumours at diagnosis and when the cancer relapsed and analysed their DNA.
They were able to identify a number of changes in their DNA that only appeared when the disease returned and showed that these changes were responsible for the cancer becoming more aggressive.
One particular combination of genetic faults was common among a number of different subtypes of medulloblastomas and accounted for a very aggressive form of the disease.
The team then looked for ways to treat relapsed medulloblastomas in mice and were able to slow the growth of the tumour with an experimental drug that targets one of the genetic faults.
The study, which was published in the journal Cancer Cell, was a collaboration between researchers at the ICR and Newcastle University and showed that some children with relapsed medulloblastoma – which currently has no effective treatment options – could benefit from existing targeted drugs.
Currently, tumour samples are not routinely taken when the cancer returns, but this study provides a rationale for samples to be taken at the time of relapse. By taking samples at the time of relapse, doctors could start to identify patients that might benefit from existing targeted drugs, improving outcomes for children with relapsed medulloblastoma.
The study was funded by Cancer Research UK, Action Medical Research, Sparks, The Brain Tumour Charity, the JGW Patterson Foundation and Christopher's Smile.
Hill et al. Combined MYC and P53 Defects Emerge at Medulloblastoma Relapse and Define Rapidly Progressive, Therapeutically Targetable Disease, Cancer Cell (2015), 27, 72–84, DOI: 10.1016/j.ccell.2014.11.002
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