Whole-Exome Sequencing of Esophageal Submucosal Gland Duct Adenocarcinoma

Abstract

Purpose Esophageal submucosal gland duct adenocarcinoma (ESGDAC) is an extremely rare histological variant of esophageal epithelial malignant tumors. To date, only few cases of ESGDAC have been reported. No comprehensive molecular analysis of ESGDAC has been conducted. This study focusses on the whole-exome sequencing (WES) to identify somatically acquired mutations and signatures of somatic mutations in ESGDAC. Methods Immunohistochemical analysis and whole-exome sequencing (WES) was performed in 3 ESGDAC genomes.Results In this study, we summarized the clinical, pathological, and immunohistochemical characteristics of patients with ESGDAC, we first performed whole-exome sequencing (WES) to summarize WES coverage statistics for each patient. We also examined cancer predisposition genes, ESGDAC-associated driver genes, and significantly mutated genes (SMGs). WES revealed TP53 as a SMG in ESGDAC. Conclusion We studied the tumor mutation profiling for the development of future targeted therapies for ESGDAC.