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Researchers have developed a new diagnostic and prognosis method for early detection of hepatocellular carcinoma HCC based on a simple blood sample containing circulating tumor DNA. HCC is the most common type of primary liver cancer in adults and among the leading causes of
cancer mortality in the world.

HCC and nonalcoholic steatohepatitis, have increased, early detection improves prognosis and survival rates, in part due to greater efficacy of localized treatment against systemic treatments. But current detection methods for HCC primarily rely upon imaging and a blood test for a non-specific tumor marker called alpha-fetoprotein AFP which is usually elevated when the disease is significantly advanced.

Non-invasive blood tests or liquid biopsies present a better alternative, there has been little success in developing effective blood-based methods for screening HCC. The only blood test, AFP, has limited clinical utility due to low sensitivity. Many liquid biopsies work by detecting circulating tumor DNA ctDNA which are fragments of genetic material shed into the blood by tumor cells. These biopsies offer several potential advantages over other methods of cancer detection.

ctDNA potentially represents the entire molecular picture of a patient's malignancy while a tumor biopsy may be limited to just the tested portion of the tumor. DNA methylation is a process that can regulate gene expression and extensive DNA methylation of a gene usually leads to a gene being turned off.

Increased methylation of tumor suppressor genes is an early event in tumor development, suggesting that altered DNA methylation patterns may be a good indicator of an emerging tumor. Researchers looked at hundreds of thousands of methylation profiles of HCC patients and healthy controls.

The researchers identified a specific panel of methylation markers that correlated to HCC, then used a variety of machine learning and statistical methods to examine their efficacy at detecting and assessing HCC in HCC patients and normal controls.
Blood-based HCC diagnosis highly correlated with tumor burden, treatment response and stage of cancer.
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