blood test for brain tumors
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Non Invasive Blood Test to Detect Brain Tumor

Currently, invasive surgical techniques are used to obtain tissue samples for diagnosing brain cancer. Accurate diagnosis of brain cancer subtypes is challenging, but it is crucial for determining prognosis and planning treatment.

To accurately design and classify different types of brain tumors, a highly sensitive, but a simple blood test has been developed, which would be a less invasive method and assist in better treatment for patients. Recent studies on DNA-methylation profiles from plasma, that revealed highly specific signatures to accurately discriminate and detect intracranial tumors that share cell-of-origin lineages, formed the basis of this work.

The paper titled, “Detection and discrimination of intracranial tumors using plasma cell-free DNA methylomes,” published in the journal Nature describes the noninvasive way to classify brain tumors.

A better and reliable way yo diagnose and subtype tumors can have a tremendous impact on how cancers are treated, said Gelareh Zadeh, MD, PhD, head of the Toronto Central Regional Cancer Program at Cancer Care Ontario and the head of surgical oncology at University Health Network.

Co-author of the paper, Daniel De Carvalho, specializes in

DNA methylation patterns and how a disruption can lead to unregulated growth in cancer cells. A DNA methylation-based liquid biopsy approach was previously developed in the lab to profile hundreds of thousands of these epigenetic alterations in DNA molecules circulating in the blood.

His team was able to develop an accurate and highly sensitive test to detect and classify multiple solid tumors, combining machine learning with this technology. This approach was applied by scientists to intracranial brain tumor classification. They compared the tumor samples of 221 brain cancer patients, with the analysis of cell-free DNA circulating in their blood plasma and tracked the type and origin of cancer.

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

Detecting any brain cancers with a blood test was thought to be impossible before, because of the impermeable blood-brain barrier. But this new way of detecting common brain tumors is so sensitive in catching even small quantity of highly specific tumor-derived signals in the blood.

“Molecular characterization of tumors by profiling epigenetic alterations in addition to genetic mutations give us a more comprehensive understanding of the altered features of a tumor, and opens the possibilities for more specific, sensitive, and tumor agnostic tests,” said De Carvalho

The same blood test can accurately identify kidney cancer from circulating cell-free DNA obtained either from plasma or from urine, according to a paper published by Carvalho and collaborators from the Dana-Farber Cancer Institute at Harvard University at the same time in Nature Medicine.

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