Researchers developed a new model that has great clinical potential for the detection of primary liver cancer and its subtypes including cholangiocarcinoma. The new method outperforms previous ones at a lower cost and is ultra-sensitive, as published in Hepatology.
“Our model showed excellent performance for cancer detection in the test cohort,” the researchers wrote. It is essential to detect primary liver cancer early in to offer the patient the best chance of survival.
Here, a team of researchers led by Jian Zhou from the Liver Cancer Institute at Zhongshan Hospital at Fudan University in Shanghai, China performed whole-genome sequencing in 192 patients with primary liver cancer using plasma cell-free DNA.
Of these, 159 patients had hepatocellular carcinoma, 26 had intrahepatic cholangiocarcinoma, and 7 had combined hepatocellular carcinoma and intrahepatic cholangiocarcinoma. The researchers also analyzed 170 controls who did not have cancer but had other liver diseases such as liver cirrhosis or hepatitis B infection.
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The researchers then constructed an ensembled stacked model for the detection of primary liver disease. They assessed the performance of the model in an independent cohort of 189 patients with primary liver disease of which 157 had hepatocellular carcinoma, 26 had intrahepatic cholangiocarcinoma, and 6 had combined liver cancer.
The model also showed a sensitivity of 95.9% in detecting stage 1 primary liver disease and a sensitivity of 97.9% in detecting stage 2 disease. Its sensitivity in detecting small tumors measuring 3 cm or less was 98.2%. It could also detect hepatocellular carcinoma with 96.2% sensitivity and intrahepatic cholangiocarcinoma with 100% sensitivity.
The ability of the method to distinguish between primary liver cancer and liver cirrhosis or hepatitis B infection was outstanding.
“Our model, out-performing previous reports at a lower cost by using solely low coverage [whole-genome sequencing] data, exhibits excellent clinical potential for ultra-sensitive and affordable detecting [primary liver cancer] and its subtypes,” the researchers concluded.
Zhang X, Wang Z, Tang W, et al. Ultra-sensitive and affordable assay for early detection of primary liver cancer using plasma cfDNA fragmentomics. Hepatology. Published online December 25, 2021. doi:10.1002/hep.32308