Studying short strands of cell-free DNA in urine could help detect early-stage cancer

Urinalysis has long been a major staple of physical tests to detect and control a number of diseases and disorders, but not cancer. What if it were that easy, though, and cancer was detected at the earliest stages of it when the disease responds more favorably to treatment and more likely better outcomes?

That was the question asked by scientists at the Translational Genomics Research Institute (TGen), a relative of City of Hope, who has found a way to get into early cancer by making analysis of short strands of DNA without cells in urine. The results of their study were published today in the scientific journal Science Translational Medicine.

It was previously thought that DNA fragments in urine were randomly reduced and were too short to provide any meaningful information about a disease as complex as cancer. The TGen and City of Hope researchers and their colleagues from Baylor University and Phoenix Children’s Hospital found that these DNA fragments are not random at all, and can clearly distinguish between healthy people and those with cancer. .

“There are many steps between where we are now and where we want to go – detecting cancer from a urine sample – but this is certainly an encouraging first step,” said Muhammed Murtaza, MBBS, Ph.D. , Associate Professor and Associate Director of the TGen Center for Noninvasive Diagnostics, and lead author of the study.

Dr. Murtaza previously led a team of TGen scientists who began the practice of circulating tumor DNA in blood, using genetic fragments to detect cancer with a simple blood draw. This “melting biopsy” method overrides the need for many surgical biopsies of suspected tumors, and means that physicians can monitor cancer in their patients more often because of the The approach is aggressive.

Collecting a urine sample reduces the physical aggression to zero, Dr. Murtaza explained, and it could eliminate a laboratory trip, as the sample could be collected at home and mailed. in for analysis.

By examining print samples from children with different cancers, whose malignancies often move very quickly, and adults with pancreatic cancer, whose early detection is critical to the consequences of the disease, researchers mapped the DNA breakdown profiles in their urine.

“We found that some regions of the genome are protected from breakdown in urine from healthy people, but the same regions are more scattered in patients with cancer,” Dr. Murtaza said.

The cookie profiles were very similar across many people; the length of the DNA fragments was similar, the regions of the genome where the fragment took place were consistent, and they informed researchers what type of cell the fragments were.

Ajay Goel, Ph.D., chair of the Department of Molecular Diagnostics and Experimental Medicine and Associate Director for Basic Science at the City of Hope, a world-renowned independent research and treatment center for cancer and meningitis. sugar, as one of the study authors. He is a leading expert in the development of early blood tests for colon, pancreatic and ovarian cancer.

“If the results of the study come to fruition, our urinalysis technology would be a remarkable breakthrough in the detection of many cancers, especially in pancreatic cancer,” said Dr Goel. Significantly reduce mortality rates for what is currently the third leading cause of cancer deaths in the US “

While early results are promising, the researchers point out that their findings need to be confirmed in much larger numbers of cancer patients and to identify differences between men and women, young and old. , and those with co-diseases, such as diabetes and other harmful diseases.

“This is a fundamental new discovery and provides a potentially dynamic way forward for early detection of cancer, as urine is one of the easiest samples to collect,” said Daniel D. Von Hoff, MD, Distinguished Professor of TGen and one of the authors of a paper. “If follow-up studies give positive results, I could one day see this test as an essential part of a person’s annual physique.”

Source:

Genomics Translation Research Institute

Magazine Reference:

Markus, H., et al. (2021) Analysis of routinely protected genomic regions in DNA without cells found in urine. Science Translational Medicine. doi.org/10.1126/scitranslmed.aaz3088.

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