AI-powered blood test detects liver cancer across distinct populations
· News-MedicalLiver cancer is one of the leading causes of cancer deaths worldwide, and its incidence continues to rise because of increasing rates of metabolic liver disease and other risk factors. Detecting liver cancer early dramatically improves treatment options, but current screening methods, which rely primarily on ultrasound imaging and the blood protein alpha-fetoprotein (AFP), can miss many early cancers, the researchers explain.
Despite these differences, the blood test consistently detected liver cancer across both populations. When combined with AFP and simple clinical risk factors, such as age and sex, the approach identified early- and late-stage cancers with greater sensitivity than existing blood testing alone.
Using a newly developed method for tracing where DNA fragments originate, called MethID, the team showed that the DELFI test works because it captures more than signals from tumor cells. It also captures signals from liver cells, blood vessels and immune cells responding to the cancer.
The researchers also identified molecular signatures that differed between populations. For example, they detected a distinctive mutation pattern across the genome associated with aflatoxin exposure in participants from Guatemala, but they also showed that the overall fragmentome classifier remained effective regardless of the underlying cause of the liver cancer.
The study suggests that genome-wide fragmentome analysis captures both universal biological features of liver cancer and region-specific molecular changes, making it adaptable to diverse patient populations around the world.
The investigators say future studies will focus on prospective clinical validation and further refining multimodal liquid biopsy approaches that combine fragmentome analysis with protein biomarkers and clinical risk factors to improve early detection of liver cancer.
In addition to Foda and Velculescu, other researchers were Hope Orjuela, Carter Norton, Shashikant Koul, Daniel C. Bruhm, Akshaya Annapragada, Jason Zavras, Sarah Short, Keerti Boyapati, Adrianna Bartolomucci, Vilmos Adleff, Nicholas Vulpescu, Kaui Patricio Lebarbenchon, Jacob Carey, Carter Portwood, Andrei Sorop, Razvan Iacob, Speranta Iacob, Liana Gheorghe, Simona Dima, Manuel Ramírez-Zea, Katherine McGlynn, Jillian Phallen, Robert Scharpf, and John Groopman.
This research was supported by the Dr. Miriam and Sheldon G. Adelson Medical Research Foundation, the Commonwealth Foundation, the Cole Foundation, a research grant from Delfi Diagnostics, National Institutes of Health grants CA121113, CA006973, CA233259, CA062924, CA271896, T32GM136577, and T32GM007814-40, and Department of Defense grant HT94252510480.
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Journal reference:
https://www.cell.com/cell-press-blue/fulltext/S3051-3839(26)00084-8