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A new diagnostic test for childhood brain tumour offers hope for other cancers

Medulloblastoma is the most common malignant childhood brain tumour and affects around 90 children a year across the UK. While 70% of children survive the disease, current treatment options are aggressive, meaning that many are left with debilitating long-term side-effects and limited chances of recovery. Research at Northumbria University is paving the way for much-needed personalised therapies, enabling clinicians to use less harmful treatments for patients with specific types – or molecular subgroups – of medulloblastoma that have more favourable outcomes.


In 2012, scientists reached the consensus that there were four molecular subgroups of medulloblastoma, each of which had distinct characteristics with varying impacts on patient outcomes. One year later, Dr Edward Schwalbe, Senior Lecturer in Bioinformatics and Biostatistics at Northumbria University, and colleagues, were the first to describe a means of distinguishing these subgroups using DNA methylation microarrays.


Subsequently, the investigators uncovered additional molecular subgroups of the disease, allowing them to identify additional patient groups that would benefit from less harmful treatments. The research has since been published in The Lancet Oncology, improving the understanding of the characteristics associated with medulloblastoma subgroups and enabling the development of new treatment strategies that are tailored to individual patient needs. This has, in turn, increased the chances of survival and recovery among those effected.


DNA methylation microarrays are widely used in research, but their high costs exclude them from routine clinical use. Dr Schwalbe and colleagues have developed a far simpler methylation classifier assay (MIMIC), which is the first routine diagnostic test to identify the molecular subgroups of medulloblastoma. Significantly, the test can be used in NHS diagnostic labs as well as other clinical environments, while also being able to handle archived tumour samples that may be of poor quality.


In the clinic, the MIMIC assay leads to the establishing of the medulloblastoma subgroup – averaging 11 days from receipt of the tumour sample and providing an extended time frame in which to select the most appropriate treatment for patients. Furthermore, by automatically sending the results to clinicians without involving the research team, the process is accelerated, leading to the routine assessment of medulloblastoma subgroups and its inclusion in personalised therapies.


MIMIC is already being used in the current European clinical trial of standard-risk medulloblastoma, and for routine diagnostic testing by clinicians at Great Ormond Street Hospital. Meanwhile, it is also being offered by NewGene, an NHS-focused clinical diagnostics company.


Looking ahead, Dr Schwalbe is supervising a PhD project aimed at developing a DNA sequencing-based assay for the molecular classification of medulloblastoma. The ultimate aim of the research project would be to expand this novel test to include all brain tumours – in childhood and adulthood – laying vital diagnostic foundations for even more cancers.


Both MIMIC and the proposed DNA sequencing-based extension have the potential to be clinically applicable to a wide range of tumours, including those of the breast, lung and bowel – all of which have high mortality rates.

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