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July 16, 2020
Cancer often progresses under the radar, especially in its early and more treatable stages. When symptoms do arise, definitive diagnosis often requires an invasive surgical procedure. So how can we diagnose cancer earlier for more people with less effort and less discomfort?
Liquid biopsy is an emerging technology aimed at addressing all of these concerns, and it continues to show signs of progress. Liquid biopsies detect circulating tumor cells or DNA in bodily fluids such as blood or urine. Recent developments in liquid biopsy have enabled researchers to detect early kidney cancer and brain cancer from blood samples.
Kidney cancer is diagnosed in more than 70,000 Americans per year and claims nearly 15,000 lives. “About 35% of kidney cancers are diagnosed only after they have spread to other parts of the body,” and often have shown no prior symptoms. An experimental new test created by Dana-Farber Cancer Institute detects abnormal methylation – chemical tags that alter the function of a DNA segment. In a test of 142 patients, including 28 healthy control subjects, the study reported near-perfect classification of patients across all stages of cancer, the institute reported.
Initially, the approach might be used to screen people with a family history of kidney cancer, or who had a previous kidney cancer. “We need to be specific first, before making it totally mainstream,” said Toni Choueiri, MD, a co-senior author of the study, which was published in Nature Medicine.
Brain cancer can also be difficult to diagnose and classify, even with a biopsy. Tumors of the brain and spine will be diagnosed in nearly 24,000 Americans this year, and claim 18,000 lives. Like the Dana-Farber scientists, researchers at Princess Margaret Cancer Institute in Toronto report also using a methylation approach to classify brain tumor types. They first compared “floating” plasma DNA to tumor DNA in 221 patients, then used machine learning to develop a computer program that was able to classify the brain tumor type based solely on the circulating tumor DNA.
“…[B]ecause this test is so sensitive in picking up even small amounts of highly specific tumor-derived signals in the blood, we now have a new, noninvasive way of detecting and discriminating between common brain tumors – something which was long thought impossible. This really is a tour de force,” explains Dr. Gelareh Zadeh, a co-senior author in the study, which was also published in Nature Medicine.
Our clients, many of whom work on developing liquid biopsies like these, rely heavily on biofluids, tumor tissue, and de-identified patient data for their work. And a lot of work remains before liquid biopsies are detecting diseases early and often in large populations. Until then, we’ll do everything in our power to support this important work.
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