BIOPSY AS A NONINVASIVE METHOD FOR THE DETECTION OF JAK3 SOMATIC MUTATIONS IN HCC EGYPTIAN PATIENTS BY NGS

Authors

  • AHMED M. ELFEKY Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City
  • A. A. ElSHAARAWY Department of Clinical Pathology, National Liver Institute (NLI), University of Menoufia
  • M. E. EBIED Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City
  • MANAL O. ELHAMSHARY Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City
  • RANDA M. TALAAT Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City
  • M. A. SAKR Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City
  • M. K. KHALIFA Children Cancer Hospital, 57357
  • E. A. AHMED Chemistry Department, Faculty of Science, University of Cairo
  • GHADA M. NASR Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City

Abstract

One of the most prevalent malignancies in the world, hepatocellular carcinoma (HCC), has a high fatality rate. Noninvasive biomarkers are desperately needed to help in HCC screening and early diagnosis. Next-generation sequencing has advanced, and genetic indicators are now the mainstay of cancer detection. Early HCC diagnosis now focuses on genetic indicators such circulating tumour DNA in peripheral blood. JAK3 is a member of the non receptor tyrosine kinase family, the members of which are able to bind to various cell surface receptors and are important in cytokine induced signal transduction. JAK3 mutations were not significantly associated with an increased risk of HCC in the Egyptian population. However, it could have a probable role in the pathogenesis of liver cell failure, HCC development, and prognosis, as the present study identified several novel genes involved in HCC using NGS. A small sample size (21 cases) is considered one of the weak spots of our study. SO, we recommend that this study will be conducted with a larger cohort in the future to completely understand JAK3 genetic alterations and their association with HCC development.

Author Biography

AHMED M. ELFEKY, Department of Molecular Diagnostics and Therapeutics, Genetic Engineering & Biotechnology Research Institute, University of Sadat City

Department of Clinical Pathology, National Liver Institute (NLI), University of Menoufia, Egypt.

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Published

2023-03-23

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Vol. 51 No. 2 (2022): Vol. 51 No. 2 (2022)

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