Detection of MET gene somatic mutations in hepatocellular carcinoma of Egyptian patients using next-generation sequencing.

IF 2 4区 医学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY
Ehab Ahmed, Nour El-Dien A, Salwa Sabet, Mohamed Khalifa, Manal El Hamshary
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引用次数: 0

Abstract

Introduction: Hepatocellular carcinoma (HCC) is the sixth most common type of cancer worldwide and fourth in Egypt. Liquid biopsy is important to get cell-tumour DNA (ctDNA), for subsequent utilisation as a biomarker for cancer diagnosis, prognosis, and treatment. In clinical oncology, ctDNA analysis is utilised in cancer screening.

Methods: The collected 48 blood samples from HCC patients were classified according to Barcelona Clinic Liver Cancer (BCLC) staging, in addition to Hepatitis C Virus (HCV) group and normal group. After the liquid biopsy, ctDNA and genomic DNA (gDNA) of the same individual were extracted. Next-generation sequencing (NGS) was conducted using a Hot spot panel, and data analysis via different cancer databases was performed.

Results: There were no significant differences in the detected mutation frequency between groups. The frequency of mutations was higher in ctDNA than in the gDNA samples from the same patients. Hence, it can be concluded that these mutations are somatic mutations, rather than germline mutations.

Conclusion: Screening of the targeted genes such as c-MET for potential mutations is very important in the determination of the appropriate therapy. Therefore, it can be used as a biomarker in the prognosis of HCC. Such screenings are also of paramount importance in the development of personalised medicine.

新一代测序检测埃及肝癌患者MET基因体细胞突变。
简介:肝细胞癌(HCC)是世界上第六大最常见的癌症类型,在埃及排名第四。液体活检对于获得细胞肿瘤DNA (ctDNA)非常重要,可作为癌症诊断、预后和治疗的生物标志物。在临床肿瘤学中,ctDNA分析用于癌症筛查。方法:收集48例HCC患者的血液样本,除丙型肝炎病毒组和正常组外,按巴塞罗那临床肝癌(BCLC)分期进行分类。液体活检后,提取同一个体的ctDNA和基因组DNA (gDNA)。使用Hot spot panel进行下一代测序(NGS),并通过不同的癌症数据库进行数据分析。结果:两组间检测到的突变频率差异无统计学意义。ctDNA的突变频率高于来自同一患者的gDNA样本。因此,可以得出结论,这些突变是体细胞突变,而不是种系突变。结论:筛选c-MET等靶基因的潜在突变对于确定合适的治疗方案非常重要。因此,它可以作为HCC预后的生物标志物。这种筛查在个性化医疗的发展中也至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Biomarkers
Biomarkers 医学-毒理学
CiteScore
5.00
自引率
3.80%
发文量
140
审稿时长
3 months
期刊介绍: The journal Biomarkers brings together all aspects of the rapidly growing field of biomarker research, encompassing their various uses and applications in one essential source. Biomarkers provides a vital forum for the exchange of ideas and concepts in all areas of biomarker research. High quality papers in four main areas are accepted and manuscripts describing novel biomarkers and their subsequent validation are especially encouraged: • Biomarkers of disease • Biomarkers of exposure • Biomarkers of response • Biomarkers of susceptibility Manuscripts can describe biomarkers measured in humans or other animals in vivo or in vitro. Biomarkers will consider publishing negative data from studies of biomarkers of susceptibility in human populations.
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