Hopp Children's Cancer Center at the National Center for Tumor Diseases (NCT) Heidelberg, 69120 Heidelberg, Germany.
Division of Pediatric Neurooncology (B062), German Cancer Research Center and German Cancer Consortium, 69120 Heidelberg, Germany.
Hum Mol Genet. 2020 Oct 20;29(R2):R205-R213. doi: 10.1093/hmg/ddaa147.
Tumor classifiers based on molecular patterns promise to define and reliably classify tumor entities. The high tissue- and cell type-specificity of DNA methylation, as well as its high stability, makes DNA methylation an ideal choice for the development of tumor classifiers. Herein, we review existing tumor classifiers using DNA methylome analysis and will provide an overview on their emerging impact on cancer classification, the detection of novel cancer subentities and patient stratification with a focus on brain tumors, sarcomas and hematopoietic malignancies. Furthermore, we provide an outlook on the enormous potential of DNA methylome analysis to complement classical histopathological and genetic diagnostics, including the emerging field of epigenomic analysis in liquid biopsies.
基于分子模式的肿瘤分类器有望定义和可靠地对肿瘤实体进行分类。DNA 甲基化具有高度的组织和细胞类型特异性,以及高度的稳定性,这使得 DNA 甲基化成为开发肿瘤分类器的理想选择。本文综述了利用 DNA 甲基化组分析开发的现有肿瘤分类器,并概述了它们在癌症分类、新的癌症亚群检测以及脑肿瘤、肉瘤和血液系统恶性肿瘤患者分层方面的新兴影响。此外,我们还展望了 DNA 甲基化组分析在补充经典组织病理学和遗传学诊断方面的巨大潜力,包括液体活检中新兴的表观基因组分析领域。