在肝细胞癌中检测到的循环自由DNA中BCL9和RPS6KB1拷贝数变异的预后和生存影响。
Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma.
发表日期:2023 Feb 27
作者:
Samar Samir Youssef, Rady Eid El-Araby, Eman Abd El-Razek Abbas, Mohamed Hassany, Tamer Elbaz
来源:
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
摘要:
循环游离DNA(cfDNA)是肝细胞癌(HCC)分子特征检测中无创生物检查替代品。本研究旨在使用cfDNA研究BCL9和RPS6KB1基因的拷贝数变异(CNV)及其对HCC预后的影响。Real-Time聚合酶链反应被用来确定100名HCC患者中CNV和cfDNA完整性指数。BCL9和RPS6KB1基因的CNV增益分别在14%和24%的患者中被检测到。BCL9 CNV的增益与酒精饮用和丙型肝炎血清阳性相关。在RPS6KB1增益患者中,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而增加。在两个基因中的增益显示了HCC高风险,伴有肝酶水平升高、血吸虫病、BCLC C和PS>1。RPS6KB1 CNV增益患者的cfDNA完整性高于BCL9 CNV增益患者。最后,BCL9增益和BCL9 + RPS6KB1增益导致更高的死亡率和较短的生存时间。cfDNA被用于检测BCL9和RPS6KB1 CNV,这会影响预后并可作为独立的HCC患者生存预测指标。
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.