Youssef Samar Samir, El-Araby Rady Eid, Abbas Eman Abd El-Razek, Hassany Mohamed, Elbaz Tamer
Microbial Biotechnology Department, National Research Centre, Dokki, Egypt.
Division of Oral Biology, Department of Periodontology, Tufts University School of Medicine, Boston, MA, USA.
Expert Rev Mol Diagn. 2023 Mar;23(3):267-278. doi: 10.1080/14737159.2023.2182191. Epub 2023 Feb 27.
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.
Real-Time Polymerase Chain Reaction was used to determine the CNV and cfDNA integrity index in 100 HCC patients.
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.
cfDNA was used to detect BCL9 and RPS6KB1 CNVs, which influence prognosis and can be used as independent predictors of HCC patient survival.
循环游离DNA（cfDNA）是用于肝细胞癌（HCC）分子谱分析的一种非侵入性肝活检替代方法。本研究旨在利用cfDNA研究BCL9和RPS6KB1基因的拷贝数变异（CNV）及其对HCC预后的影响。
采用实时聚合酶链反应测定100例HCC患者的CNV和cfDNA完整性指数。
分别在14%和24%的患者中检测到BCL9和RPS6KB1基因的CNV增加。BCL9基因CNV增加与饮酒者患HCC的风险以及丙型肝炎血清学阳性有关。在RPS6KB1基因增加的患者中，HCC风险随着高体重指数、吸烟、血吸虫病和巴塞罗那临床肝癌分期（BCLC）A期而增加。两个基因的增加均显示出HCC风险高，伴有肝酶升高、血吸虫病、BCLC C期和PS>1。RPS6KB1基因CNV增加的患者cfDNA完整性高于BCL9基因CNV增加的患者。最后，BCL9基因增加和BCL9 + RPS6KB1基因增加导致更高的死亡率和缩短的生存时间。
cfDNA用于检测BCL9和RPS6KB1基因的CNV，其影响预后，可作为HCC患者生存的独立预测指标。
Zotero 插件