Scientists have developed a method, which detects patterns of chemical tags (DNA methylation) within the genetics of the tumour. DNA methylation is a process by which hydrogen and carbon atoms are added to DNA, with the potential to change its function.  When tested in clinic the algorithm corrected initial diagnosis in about 12% of cases. This new technique will enable doctors to place patients more precisely into specific risk groups and make more accurate therapy decisions through enhancing the classification of tumors of the central nervous system (CNS).

Professor Sebastian Brandner and his team set up the methylation platform at UCL/UCLH to contribute to the testing of the method in a clinical setting. DNA methylation tests are now routinely carried out at UCLH – one of only two centres in the UK to use it. Patients treated at UCLH have already benefitted from this novel technology and the clinical team have contributed to identifying DNA methylation patterns in rare tumour classes.

Sebastian Brandner, Professor for Neuropathology, and his colleague Zane Jaunmuktane, Clinical Lecturer at UCL, both also consultant neuropathologists at the National Hospital, UCLH and co-authors on the study, said: “In the last two years our team has been using this platform and it has made a huge difference to the way we diagnose brain tumours. We have tested more than 400 brain tumours with this technology, and it has fundamentally changed the way our oncologists and neurosurgeons treat patients.”

Currently clinicians make a diagnosis by looking at a tumour tissue under a microscope but cannot always identify the correct diagnostic category patients should be placed into. The algorithm, however, is able to reliably identify 82 different types of tumours located in the brain and spine, allowing for a more precise diagnosis. In about a quarter of the cases the algorithm has made a different diagnosis, which has significantly changed the treatment of some of our patients.

The platform was coded and designed by scientists from German Cancer Consortium, Heidelberg University Hospital and Hopp Children’s Cancer Centre at the NCT Heidelberg to develop and implement the algorithm.

The online platform on DNA analysis is now available at www.molecularneuropathology.org, enabling researchers to analyse their own data.

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