Detection of MET gene somatic mutations in hepatocellular carcinoma of Egyptian patients using next-generation sequencing

Biomarkers. 2023 Jun;28(4):379-386. doi: 10.1080/1354750X.2023.2184497. Epub 2023 Mar 6.

Abstract

Introduction: Hepatocellular carcinoma (HCC) is the sixth most common type of cancer worldwide and fourth in Egypt. Liquid biopsy is important to get cell-tumour DNA (ctDNA), for subsequent utilisation as a biomarker for cancer diagnosis, prognosis, and treatment. In clinical oncology, ctDNA analysis is utilised in cancer screening.

Methods: The collected 48 blood samples from HCC patients were classified according to Barcelona Clinic Liver Cancer (BCLC) staging, in addition to Hepatitis C Virus (HCV) group and normal group. After the liquid biopsy, ctDNA and genomic DNA (gDNA) of the same individual were extracted. Next-generation sequencing (NGS) was conducted using a Hot spot panel, and data analysis via different cancer databases was performed.

Results: There were no significant differences in the detected mutation frequency between groups. The frequency of mutations was higher in ctDNA than in the gDNA samples from the same patients. Hence, it can be concluded that these mutations are somatic mutations, rather than germline mutations.

Conclusion: Screening of the targeted genes such as c-MET for potential mutations is very important in the determination of the appropriate therapy. Therefore, it can be used as a biomarker in the prognosis of HCC. Such screenings are also of paramount importance in the development of personalised medicine.

Keywords: HCC; MET gene; NGS; liquid biopsy; somatic mutations.

MeSH terms

  • Biomarkers, Tumor / genetics
  • Carcinoma, Hepatocellular* / diagnosis
  • Carcinoma, Hepatocellular* / genetics
  • Circulating Tumor DNA* / genetics
  • DNA, Neoplasm
  • Egypt
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Liver Neoplasms* / diagnosis
  • Liver Neoplasms* / genetics
  • Mutation

Substances

  • Circulating Tumor DNA
  • DNA, Neoplasm
  • Biomarkers, Tumor