Novel Epigenetic Biomarkers in Pregnancy-Related Disorders and Cancers

Cells. 2019 Nov 18;8(11):1459. doi: 10.3390/cells8111459.


As the majority of cancers and gestational diseases are prognostically stage- and grade-dependent, the ultimate goal of ongoing studies in precision medicine is to provide early and timely diagnosis of such disorders. These studies have enabled the development of various new diagnostic biomarkers, such as free circulating nucleic acids, and detection of their epigenetic changes. Recently, extracellular vesicles including exosomes, microvesicles, oncosomes, and apoptotic bodies have been recognized as powerful diagnostic tools. Extracellular vesicles carry specific proteins, lipids, DNAs, mRNAs, and miRNAs of the cells that produced them, thus reflecting the function of these cells. It is believed that exosomes, in particular, may be the optimal biomarkers of pathological pregnancies and cancers, especially those that are frequently diagnosed at an advanced stage, such as ovarian cancer. In the present review, we survey and critically appraise novel epigenetic biomarkers related to free circulating nucleic acids and extracellular vesicles, focusing especially on their status in trophoblasts (pregnancy) and neoplastic cells (cancers).

Keywords: cell-free DNA; cell-free fetal DNA; cell-free tumor DNA; exosomes; extracellular vesicles; microRNA.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Epigenesis, Genetic
  • Extracellular Vesicles / genetics
  • Female
  • Humans
  • Neoplasms / diagnosis*
  • Neoplasms / genetics
  • Precision Medicine
  • Pregnancy
  • Pregnancy Complications / diagnosis*
  • Pregnancy Complications / genetics


  • Biomarkers, Tumor