Cancers, Vol. 13, Pages 4300: Genomic and Transcriptomic Characteristics of Esophageal Adenocarcinoma

Cancers, Vol. 13, Pages 4300: Genomic and Transcriptomic Characteristics of Esophageal Adenocarcinoma Cancers doi: 10.3390/cancers13174300 Authors: Sascha Hoppe Christoph Jonas Marten Christian Wenzel Oscar Velazquez Camacho Christoph Arolt Yue Zhao Reinhard Büttner Alexander Quaas Patrick Sven Plum Axel Maximilian Hillmer Esophageal adenocarcinoma (EAC) is a deadly disease with limited options for targeted therapy. With the help of next-generation sequencing studies over the last decade, we gained an understanding of the genomic architecture of EAC. The tumor suppressor gene TP53 is mutated in 70 to 80% of tumors followed by genomic alterations in CDKN2A, KRAS, ERBB2, ARID1A, SMAD4 and a long tail of less frequently mutated genes. EAC is characterized by a high burden of point mutations and genomic rearrangements, resulting in amplifications and deletions of genomic regions. The genomic complexity is likely hampering the efficacy of targeted therapies. Barrett’s esophagus (BE), a metaplastic response of the esophagus to gastro-esophageal reflux disease, is the main risk factor for the development of EAC. Almost all EACs are derived from BE. The sequence from BE to EAC provides an opportunity to study the genomic evolution towards EAC. While the overlap of point mutations between BE and EAC within the same patient is, at times, surprisingly low, there is a correlation between the complexity of the genomic copy number profile and the development of...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research