Background: Diagnosis of hepatocellular carcinoma (HCC) by liver biopsy can be challenging due to limited liver access and cirrhosis. Circulating tumor DNA (ctDNA) are genetic fragments originating from the tumor that circulate as a part of circulating free DNA and offer a representative sample of the tumor molecular profile.
Aim of work: Our study aimed to investigate the role of TERT C228T promoter mutation in ctDNA as a diagnostic biomarker in Egyptian HCC patients. Methods: Our study is a case-control study that included 16 advanced HCC (AHCC), 12 early HCC (EHCC) cases, 10 chronic hepatitis C virus (HCV) patients as pathological control group and 10 healthy controls. Plasma was collected for genotyping of TERT C228T promoter mutation by real-time PCR. Results: All cases in our study including AHCC and EHCC patients as well as HCV pathological controls and healthy controls carried the wild TERT genotype. There was a significant difference of AST, ALT, total bilirubin and albumin between the different groups included in the study. Our study has also shown that AFP levels were significantly higher in AHCC patients when compared to EHCC patients. Conclusion: All studied samples in our study had the wild TERT genotype in ctDNA by real-time PCR. This could be attributed to the relatively small sample size of our study, and the relatively lower sensitivity of real-time PCR compared to other technologies such as droplet digital PCR (ddPCR) or next-generation sequencing. Future studies should include a larger sample size and utilize more sensitive technologies.