Value of circulating cell-free DNA in diagnosis of hepatocelluar carcinoma

To investigate the value of combined detection of circulating cell-free DNA (cfDNA), α-fetal protein (AFP) and α L-fucosidase (AFU) for diagnosis of hepatocellular carcinoma (HCC).

Serum samples from 39 HCC patients and 45 normal controls were collected. Branched DNA (bDNA) was used to detect the level of cfDNA, and a receiver operating characteristic curve was employed to evaluate the diagnostic sensitivity, specificity, accuracy, positive predictive value, negative predictive value, positive likelihood ratio, negative likelihood ratio and Youden index, and to assess the diagnostic efficiency and their correlations with the clinicopathological features. AFP and AFU were detected by chemiluminescence and colorimetry, respectively. The significance of combined detection of the three biomarkers was discussed.

cfDNA level was increased in 22 of the 39 HCC samples and in 2 of the 45 normal controls. cfDNA level in HCC samples was significantly higher than that in normal controls (P < 0.05). There were significant differences in sex and extra- and intrahepatic metastasis (P < 0.05). There was no significant correlation between cfDNA, AFP and AFU in the detection of HCC. The sensitivity of combined detection of cfDNA with one marker (AFP or AFU) and cfDNA with two markers (AFP and AFU) was 71.8%, 87.2% and 89.7% vs 56.4%, 53.8% and 66.7% for cfDNA, AFP and AFU used alone, respectively, the difference being statistically significant (P < 0.05).

Quantitative analysis of cfDNA is sensitive and feasible, and the combined detection of cfDNA with AFP or AFU or both could improve the diagnostic sensitivity for HCC.