Genomic and Epigenomic Aberrations in Esophageal Squamous Cell Carcinoma and Implications for Patients

Gastroenterology. 2018 Jan;154(2):374-389. doi: 10.1053/j.gastro.2017.06.066. Epub 2017 Jul 27.

Abstract

Esophageal squamous cell carcinoma (ESCC) is a common malignancy without effective therapy. The exomes of more than 600 ESCCs have been sequenced in the past 4 years, and numerous key aberrations have been identified. Recently, researchers reported both inter- and intratumor heterogeneity. Although these are interesting observations, their clinical implications are unclear due to the limited number of samples profiled. Epigenomic alterations, such as changes in DNA methylation, histone acetylation, and RNA editing, also have been observed in ESCCs. However, it is not clear what proportion of ESCC cells carry these epigenomic aberrations or how they contribute to tumor development. We review the genomic and epigenomic characteristics of ESCCs, with a focus on emerging themes. We discuss their clinical implications and future research directions.

Keywords: Epigenomics; Esophageal Cancer; Genomics.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acetylation
  • Carcinoma, Squamous Cell / genetics*
  • DNA Copy Number Variations
  • DNA Methylation
  • Epigenomics*
  • Esophageal Neoplasms / genetics*
  • Esophageal Squamous Cell Carcinoma
  • Exome / genetics*
  • Genetic Heterogeneity*
  • Histones / genetics*
  • Humans
  • Mutation
  • Oncogenes / genetics*
  • RNA / genetics
  • RNA Editing

Substances

  • Histones
  • RNA