Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma

Theodor Bilharz Research Institute

Bibliographic Information

Authors: Youssef S.S.; El-Araby R.E.; Abbas E.A.E.-R.; Hassany M.; Elbaz T.

Journal: Expert Review of Molecular Diagnostics

Publisher: Taylor and Francis Ltd.

Publication Date: 27 February 2023

Volume / Issue: Volume 23 / Issue 3

Pages: 267–278

ISSN: 14737159

DOI: 10.1080/14737159.2023.2182191

Scopus: View on Scopus

PubMed: 36803362

Document Type: Article

Authors and Affiliations

Youssef S.S., Microbial Biotechnology Department, National Research Centre, Dokki, Egypt; El-Araby R.E., Division of Oral Biology, Department of Periodontology, Tufts University School of Medicine, Boston, MA, United States, Central Lab, Theodor Bilharz Research Institute (TBRI), Ministry of Scientific Research, Giza, Egypt; Abbas E.A.E.-R., Microbial Biotechnology Department, National Research Centre, Dokki, Egypt; Hassany M., Tropical Medicine Department, National Hepatology and Tropical Medicine Research Institute, Cairo, Egypt; Elbaz T., Department of Endemic Medicine and Hepatogastroenterology, Faculty of Medicine, Cairo University, Cairo, Egypt

Abstract

Background: Circulating cell-free DNA (cfDNA) is a noninvasive substitute to liver biopsy for hepatocellular carcinoma (HCC) molecular profiling. This study aimed to use cfDNA to investigate copy number variation (CNV) in the BCL9 and RPS6KB1 genes and its impact on prognosis in HCC. Methods: Real-Time Polymerase Chain Reaction was used to determine the CNV and cfDNA integrity index in 100 HCC patients. Results: CNV gain in BCL9 and RPS6KB1 genes was detected in 14% and 24% of patients, respectively. Gain in CNV of BCL9 associated with risk of HCC in alcohol drinkers and hepatitis C seropositivity. In patients with RPS6KB1 gain, HCC risk increased with a high body mass index, smoking, schistosomiasis, and Barcelona clinical liver cancer stage (BCLC) A. Gain in both genes showed a high risk of HCC with elevated liver enzymes, Schistosomiasis, BCLC C, and PS > 1. The integrity of cfDNA was higher in patients with CNV gain in RPS6KB1 than those harboring CNV gain in BCL9. Lastly, BCL9 gain and BCL9 + RPS6KB1 gain led to higher mortality rates and reduced survival times. Conclusion: cfDNA was used to detect BCL9 and RPS6KB1 CNVs, which influence prognosis and can be used as independent predictors of HCC patient survival. © 2023 Informa UK Limited, trading as Taylor & Francis Group.

Keywords

BCL9; circulating cell-free DNA (cfDNA); copy number variation profiling; Hepatocarcinogenes; liquid biopsy; RPS6KB1; Biomarkers, Tumor; Carcinoma, Hepatocellular; Cell-Free Nucleic Acids; DNA; DNA Copy Number Variations; Humans; Liver Neoplasms; Prognosis; Transcription Factors; circulating free DNA; BCL9 protein, human; cell free nucleic acid; RPS6KA1 protein, human; transcription factor; tumor marker; adult; African; Article; bcl9 gene; bioinformatics; body mass; cancer patient; cancer prognosis; cancer risk; cancer staging; cancer survival; clinical feature; controlled study; copy number variation; Egypt; female; gene; genetic gain; hepatitis C; histopathology; human; human tissue; liver cell carcinoma; major clinical study; male; middle aged; mortality rate; people by drinking status; rps6kb1 gene; schistosomiasis; smoking; survival time; genetics; liver tumor

Citation Information

Scopus Citations: 4

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