Whole Exome Sequencing of Primary Esophageal Squamous Cell Carcinoma and Esophageal Adenocarcinoma in One Individual

Published: December 13, 2024
Views:       Downloads:
Abstract

Objective To compare the genomic variants of primary esophageal squamous cell carcinoma (ESCC) and primary esophageal adenocarcinoma (EAC) using a special model of concurrent ESCC and EAC in the same individual. Methods Six samples of ESCC, EAC and normal esophageal tissues from two patients with concurrent ESCC and EAC in the same individual were subjected to whole-exome sequencing by using whole-exome sequencing. Results ESCC and EAC have different mutational features, and 19 mutated genes shared in esophageal squamous carcinoma and esophageal adenocarcinoma were found (OBSCN, TMEM261, ZNF462, STYXL1, EDEM3, SCN2A, WDR87, MACROD2, PAGE1, ANKRD18B, OR4Q3, GOLGA3, A2ML1, CACNA1A, PSMD3, CD1E, EPRS, PCDH11X and CHN1), three genes (DST, PCM1 and KIAA1328) were found to be mutated both in the two ESCC, and no co-occurring genes were found in the two EAC. Conclusion ESCC and EAC have obvious characteristics of tumor heterogeneity and gene mutation, and may have the same molecular mechanism.

Published in Abstract Book of MEDLIFE2024 & ICBLS2024
Page(s) 44-44
Creative Commons

This is an Open Access abstract, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Concurrent Cancer, Simultaneity, Esophageal Squamous Cell Carcinoma, Esophageal Adenocarcinoma, Gene Mutation