Latest research progress of ctDNA methylation for tumor diagnosis and prognosis / 中华检验医学杂志

ABSTRACT

Circulating tumor DNAs (ctDNAs) are DNA fragments released from tumor cells into bloodstream, containing genetic mutations and epigenetic variations related to cancer. DNA methylation variation is a kind of epigenetic variation which happens in early carcinogenesis and dynamically changes with cancer development. Liquid biopsy of ctDNA methylation has the advantages of non-invasiveness, target molecule stableness, considerable cost-effectiveness, high diagnostic performance and wide application expansion, detection of whose level is conducive to early diagnosis and prognostic evaluation of cancer. The pre-analytical procedures and methylation detection methodologies significantly influence after test results, and should be standardized to obtain high quality results. Up to now, a large amount of literature covering the utility of ctDNA methylation in cancer diagnosis and prognosis have been published. It is believed that in the near future, the detection process of ctDNA methylation would be standardized, and the large-scale clinical application of ctDNA methylation as a liquid biopsy project would be promoted.