Researchers Could Diagnose Brain Tumors With a Blood Test

Tuesday, June 23, 2020 - 12:42

Dr. Gelareh Zadeh, Medical Director of the Krembil Brain Institute, in cooperation with Senior Scientist Dr. Daniel De Carvalho at Princess Margaret Cancer Center has succeeded to diagnose and classify different types of brain tumors with a simple but highly sensitive blood test.

The finding, published in Nature Medicine on June 22, 2020, describes a non-invasive and easy way to classify brain tumors, Eurek Alert reports.

A major challenge in treating brain cancers is the accurate diagnosis of different types of brain cancers, and tumours ranging from low grade - which can look almost normal under a microscope - to aggressive tumours. Cancer grades are used to determine prognosis, and assist in treatment planning.

Current methods to diagnose and establish the subtype of brain cancer based on molecular information rely upon invasive surgical techniques to obtain tissue samples, which is a high-risk procedure and anxiety-provoking for patients.

The ability to diagnose and classify the type of brain tumour without the need for a tissue sample is revolutionary and practice changing. In some cases, surgery may not even be necessary.

"If we had a better and more reliable way to diagnose and subtype tumors, we could transform patient care," says Dr. Gelareh Zadeh, Medical Director of the Krembil Brain Institute, Head of Surgical Oncology at the Princess Margaret Cancer Centre, Senior Scientist at the Princess Margaret Cancer Research Institute, Professor of Surgery, University of Toronto, and a co-senior author in the study.

Dr. Zadeh worked with Senior Scientist Dr. Daniel De Carvalho at Princess Margaret Cancer Centre, who is a world leader in the field of cancer epigenetics applied to early detection, classification and novel therapeutic interventions.

Working together, Drs. Zadeh and De Carvalho decided to use this same approach in the challenging application of intracranial brain tumor classification. The clinicians and scientists tracked the cancer origin and type by comparing patient tumor samples of brain cancer pathology, with the analysis of cell-free DNA circulating in the blood plasma from 221 patients.

Using this approach, they were able to match the circulating plasma ctDNA to the tumor DNA, confirming their ability to identify brain tumor DNA circulating in the blood of these patients. Then, using a machine learning approach, they developed a computer program to classify the brain tumor type based solely on the circulating tumor DNA.

"But because this test is so sensitive in picking up even small amounts of highly specific tumour-derived signals in the blood, we now have a new, non-invasive way of detecting and discriminating between common brain tumours - something which was long thought impossible. This really is a tour de force," explains Dr. Zadeh.

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