Improving diagnoses through a tumour’s molecular profile

Thursday 15 March 2018

Research funded by The Brain Tumour Charity has led to the development of a classification system for brain tumours based on molecular profiling

The study conducted by researchers at the German Cancer Research Centre (DFKZ), is paving the way to improve tumour diagnosis.

Led by Dr David Jones (pictured second from left), the research team have developed an algorithm that will improve diagnostic accuracy in neuropathology, as well as other fields of tumour pathology.

The tool that we have developed uses a molecular 'fingerprint' of the tumour, to tell us about its origins. By comparing this fingerprint with a database of almost 3,000 reference tumours that we have established, we can predict the precise genetic subgroup of the tumour," says Dr Jones.

The algorithm will classify the tumour based on epigenetic changes, specifically its DNA methylation profile. Epigenetic changes refer to how changes in the structure of DNA influence the way DNA is read. DNA methylation is a type of epigenetic modification that causes changes in gene expression.

For the past decade, tumour diagnosis has been conducted based on visual examination of a tumour sample under the microscope.

While this method has served well, it is a subjective process and has a significant amount of variability depending on the individual viewing the sample. This tool will provide a standardised method, allowing for fast and accurate tumour diagnosis.

“We found that adding the molecular profiling led to a change in diagnosis in more than 10% of cases. We believe that by providing neuropathologists with a more objective tool to help with their decision making, more patients will benefit from a precise diagnosis and thereby receive the most appropriate treatment for their disease," says Dr Jones.

This classification system will have a significant clinical impact, as it will improve diagnostic accuracy and speed, as well as allow patients to receive treatment regimens tailored to their specific tumour type.

Additionally, this tool has been made available to researchers and clinicians worldwide and since its launch, there have been over 4,500 cases that have been uploaded.