Evaluation of the Clinical Utility of Detecting Circulating Tumor DNA (ctDNA) Mutation Gene Locus TP53 rs28934571 (c.747G>T) Using Real Time PCR (RT-PCR) and Droplet Digital PCR (ddPCR) in Egyptian Hepatocellular Carcinoma Patients

Abstract

Abstract Background the detection and analysis of circulating nucleic acids in blood may aid not only in disease diagnosis but also in guiding molecular targeted therapy, monitoring response to such or other treatments, as well as identifying mutations associated with drug resistance. Furthermore, unlike a tumor biopsy, circulating nucleic acids may provide useful information regarding tumor heterogeneity. Objective compare ctDNA by targeting the hotspot mutation gene locus TP53 rs28934571 (c.747G>T) in normal persons, chronic liver disease patients, early and late HCC cases to evaluate its diagnostic value and analyse ctDNA Patients and Methods It was performed on 100 adult subjects. Patients were recruited from October 2020 through June 2022 from Ain Shams Centre for Organ Transplantation and Tropical Medicine Department, Ain Shams University Hospitals, including: Eighty (80) patients diagnosed with HCC on top of HCV according to European Association for Study of the Liver (EASL) guidelines. In addition, a non-HCC group was included: ten (10) HCV-positive patients and ten (10) healthy controls were recruited to the study (non-HCC group). HCC clinical stage was determined according to Barcelona Clinic Liver Cancer (BCLC) staging classification and Child-Pugh classification Results There was no significant statistical difference between the HCC group, healthy control and HCV control group as regards age (p value = .09), sex (p value = 1) and comorbidities. AST was found statistically significant in HCC group in comparison with healthy control group (p value = .018) and there was statistical significant difference between HCC group and (healthy and HCV) control groups as regards albumin(p value = .03) and INR (p value <.001). 40 patients (50 %) were within Milan criteria, 12 patients (15%) were within USCF, 28 patients (35%)were beyond all and 39 patients (48.75%) were child A. Mean meld score was 12.45 ± 5.94. As regards the tumor charecterictics in the explant pathology of HCC patients