Urine-Based Test Detects Head and Neck Cancer

Human papillomavirus (HPV) is well-known for its role in causing cervical cancer and is also increasingly identified as being responsible for cancers in the mouth, throat, and other areas of the head and neck. Early detection of cancer is essential, as it greatly improves patient outcomes. Now, a new urine-based test that can detect DNA fragments shed by head and neck tumors could potentially enable earlier detection of these cancers, which currently lack effective screening techniques.

The research team at the University of Michigan (Ann Arbor, MI, USA) utilized whole genome sequencing to show that cell-free DNA fragments found in urine, which originate from tumor cells and pass from the bloodstream through the kidneys, are predominantly ultra-short, with less than 50 base pairs. Their small size makes detection difficult using traditional urine or blood-based liquid biopsy tests for circulating tumor DNA (ctDNA). Currently in the experimental stage, this mail-in test has been provided to research participants located more than a hundred miles from Ann Arbor. These participants collect their urine samples and send them back to the University of Michigan lab for analysis, which determines the presence or absence of head and neck cancer.

Although the focus of the initial studies was on head and neck cancer, the methodology has the potential to be broadened to include other types of cancer. For instance, the team also demonstrated the ability of this test to detect ctDNA in urine from patients with breast cancer and acute myeloid leukemia, paving the way for further applications of urine-based testing in other cancers. One of the most significant findings from this research was the test's ability to detect cancer recurrences much earlier than traditional clinical imaging methods would allow. Thus, this innovative approach could revolutionize the early detection and monitoring of cancer.

“Many people are not aware that urine carries information about many different cancer types, although it is made in the kidneys. Our findings about the difference in ctDNA fragment sizes and the test we developed for HPV-positive head and neck cancer detection provide crucial information on how urine-based diagnostic assays can be developed for different cancers,” said study co-first author and research specialist Chandan Bhambhani, Ph.D. “Further, these types of tests are likely to have a much higher compliance in patients requiring follow-up testing post treatment, due to the convenience of self-collection of samples, when compared to blood-based assays.”

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