Diagnostic performance of RASSF1A and CDKN2A gene methylation versus α-fetoprotein in hepatocellular carcinoma.

Aim of the study: This study aimed to evaluate the methylation status of two genes in the peripheral blood as possible non-invasive biomarkers for hepatocellular carcinoma (HCC) development in Egyptian patients with hepatitis C virus (HCV)-related liver cirrhosis, compare them with α-fetoprotein (AFP), and assess their relationship with the clinicopathological characteristics of the tumor.

Material and methods: Thirty healthy volunteers, forty patients with HCC on top of HCV-associated liver cirrhosis, and forty patients with HCV-associated liver cirrhosis participated in this study. Using methylation-specific polymerase chain reaction (MSP), the methylation status of RASSF1A and CDKN2A was assessed.

Results: The tumor group was significantly more methylated in both genes than the cirrhosis and the control groups. The RASSF1A gene was highly methylated in advanced tumor characteristics. There was no association between AFP levels in the blood and the methylation state of both genes. The combined diagnostic performance of the methylation status of both genes in predicting HCC in cirrhotic patients was high but not to the degree of that of AFP.

Conclusions: Methylated RASSF1A and CDKN2A levels in the blood may be employed as a non-invasive biomarker for the detection of HCC, especially in high-risk individuals.