Laboratory of Pathology, National Cancer Institute, Bethesda, Maryland 20892, USA; email:
Annu Rev Pathol. 2022 Jan 24;17:295-321. doi: 10.1146/annurev-pathol-042220-022304. Epub 2021 Nov 4.
Histomorphology has been a mainstay of cancer diagnosis in anatomic pathology for many years. DNA methylation profiling is an additional emerging tool that will serve as an adjunct to increase accuracy of pathological diagnosis. Genome-wide interrogation of DNA methylation signatures, in conjunction with machine learning methods, has allowed for the creation of clinical-grade classifiers, most prominently in central nervous system and soft tissue tumors. Tumor DNA methylation profiling has led to the identification of new entities and the consolidation of morphologically disparate cancers into biologically coherent entities, and it will progressively become mainstream in the future. In addition, DNA methylation patterns in circulating tumor DNA hold great promise for minimally invasive cancer detection and classification. Despite practical challenges that accompany any new technology, methylation profiling is here to stay and will become increasingly utilized as a cancer diagnostic tool across a range of tumor types.
多年来，组织形态学一直是解剖病理学癌症诊断的主要方法。DNA 甲基化分析是另一种新兴的工具，它将作为辅助手段，提高病理诊断的准确性。全基因组 DNA 甲基化特征分析与机器学习方法相结合，已经可以创建临床级别的分类器，尤其是在中枢神经系统和软组织肿瘤中。肿瘤 DNA 甲基化分析导致了新实体的鉴定，并将形态学不同的癌症整合为具有生物学一致性的实体，它将在未来逐步成为主流。此外，循环肿瘤 DNA 中的 DNA 甲基化模式为微创癌症检测和分类提供了巨大的希望。尽管任何新技术都伴随着实际挑战，但甲基化分析已经存在，并将随着时间的推移越来越多地被用作各种肿瘤类型的癌症诊断工具。
