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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.