DETECTION OF FMS-related tyrosine kinase-3 (FLT3) MUTA- TIONS PROFILE IN EGYPTIAN HEPATOCELLULAR CARCI- NOMA PATIENTS

Authors

  • MANAL O. EL HAMSHARY Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnology Research Institute, University of Sadat city
  • MOHAMED AWAD Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnology Research Institute, University of Sadat city
  • RANDA M. TALAAT Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnology Research Institute, University of Sadat city
  • MUSTAFA A. SAKR Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnology Research Institute, University of Sadat city
  • MOHAMED K. KHALIFA Children Cancer Hospital, 57357
  • EHAB A. AHMED Chemistry Department, Faculty of Science, Cairo University
  • GHADA M. NASR Department of Molecular Diagnostic and Therapeutic, Genetic Engineering and Biotechnology Research Institute, University of Sadat city

Abstract

Background and objective: Hepatocellular carcinoma (HCC) is the third most common cancer globally and a major cause of mortality. Despite advancements in early treatment, advanced cases often have a poor prognosis due to high rates of recurrence. Understanding the disease's underlying mechanisms and associated genetic abnormalities is crucial for effective treatment. Recent research that sequenced all of the coding exons in HCC has provided fresh insight into the genetic characteristics of this cancer. Patients and methods: In this crosssectional study, 21 HCC Egyptian individuals were included and the FLT3 mutations in those individuals were detected using a special Next generation sequencing (NGS) panel (AmpliSeq). In addition, study the associations between these mutations and patient clinical characteristics. Results: In all 21 patients who underwent FLT3 gene sequencing, mutations were identified in (81%) patients. When compared to the genomic control, there were 36 somatic mutations were detected, of these (80.6%) were single nucleotide variants (SNVs), Among SNVs, (20.7%) were synonymous, (27.6%) were non-synonymous, and (51.7%) were coding sequence variants. Conclusion: It was concluded from this research that detection of numerous somatic mutations of FLT3 can assist in the etiology of HCC.

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2024-09-18

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