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液体活检中的cfDNA甲基化作为睾丸精原细胞瘤的潜在生物标志物

cfDNA methylation in liquid biopsies as potential testicular seminoma biomarker.

作者信息

Raos Dora, Oršolić Davor, Mašić Silvija, Tomić Miroslav, Krasić Jure, Tomašković Igor, Gabaj Nora Nikolac, Gelo Nina, Kaštelan Željko, Kuliš Tomislav, Bojanac Ana Katušić, Barešić Anja, Ulamec Monika, Ježek Davor, Sincic Nino

机构信息

University of Zagreb School of Medicine, Department of Medical Biology, 10000 Zagreb, Croatia.

University of Zagreb School of Medicine, Scientific Group for Research on Epigenetic Biomarkers, 10000 Zagreb, Croatia.

出版信息

Epigenomics. 2022 Dec;14(23):1493-1507. doi: 10.2217/epi-2022-0331. Epub 2023 Feb 1.

Abstract

Seminoma is a testicular tumor type, routinely diagnosed after orchidectomy. As cfDNA represents a source of minimally invasive seminoma patient management, this study aimed to investigate whether cfDNA methylation of six genes from liquid biopsies, have potential as novel seminoma biomarkers. cfDNA methylation from liquid biopsies was assessed by pyrosequencing and compared with healthy volunteers' samples. Detailed analysis revealed specific CpGs as possible seminoma biomarkers, but receiver operating characteristic curve analysis showed modest diagnostic performance. In an analysis of panels of statistically significant CpGs, two DNA methylation panels emerged as potential seminoma screening panels, one in blood CpG8/CpG9/CpG10 () and the other in seminal plasma CpG1()/CpG1(). The presented data promote the development of liquid biopsy epigenetic biomarkers in the screening of seminoma patients.

摘要

精原细胞瘤是一种睾丸肿瘤类型,通常在睾丸切除术后被诊断出来。由于循环游离DNA(cfDNA)是精原细胞瘤患者微创管理的一个来源,本研究旨在调查液体活检中六个基因的cfDNA甲基化是否有潜力作为新型精原细胞瘤生物标志物。通过焦磷酸测序评估液体活检中的cfDNA甲基化,并与健康志愿者的样本进行比较。详细分析揭示了特定的CpG位点作为可能的精原细胞瘤生物标志物,但受试者工作特征曲线分析显示诊断性能一般。在对具有统计学意义的CpG位点面板进行分析时,出现了两个DNA甲基化面板作为潜在的精原细胞瘤筛查面板,一个在血液中(CpG8/CpG9/CpG10),另一个在精浆中(CpG1()/CpG1())。所呈现的数据推动了液体活检表观遗传生物标志物在精原细胞瘤患者筛查中的发展。

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