Identification of the distinct genomic features in gastroesophageal junction adenocarcinoma and its Siewert subtypes
| Autor: | Xiaoyu Zuo, Qirong Geng, Jin-Xin Bei, Dazhi Xu, Jiawen Lao, Shangxiang Chen |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Adult Male DNA Copy Number Variations Esophageal Neoplasms Esophageal adenocarcinoma Biology Gastroesophageal Junction Adenocarcinoma Adenocarcinoma medicine.disease_cause Gastroesophageal Junction Pathology and Forensic Medicine Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Stomach Neoplasms Chromosome instability Exome Sequencing medicine Biomarkers Tumor Humans Genetic Testing Gene Aged Aged 80 and over Mutation Differential treatment Middle Aged Molecular biology 030104 developmental biology 030220 oncology & carcinogenesis Female Esophagogastric Junction Stomach Adenocarcinoma |
| Zdroj: | The Journal of pathologyReferences. 252(3) |
| ISSN: | 1096-9896 |
| Popis: | Rates of gastroesophageal junction adenocarcinomas (GEJAs) have shown an alarming increase; however, the genetic background of GEJA and its Siewert classification have yet to be uncovered. Here, 60 paired tumor and normal DNA samples from GEJA patients were analyzed by whole-exome sequencing. Among them, 13 were Siewert type I, 14 were type II, and 33 were type III. A predominance of C/G>T/A substitutions was discovered in GEJA, followed by C/G>A/T substitutions. Notably, Siewert type I and type II/III display distinct sets of driver genes, mutational spectrum, and recurrently disrupted pathways. Siewert type I showed similarity to esophageal adenocarcinomas (EACs) and the chromosomal instability subtype of stomach adenocarcinomas, while Siewert type II/III showed similarity to the genomic stable subtype of stomach adenocarcinoma. We also found that mutation of FBXW7, a driver gene of GEJA, was enriched in Siewert type I. Our data identify differences between GEJA and stomach/EACs at the genomic level and provide evidence for differential treatment based on Siewert classification of GEJA. © 2020 The Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd. |
| Databáze: | OpenAIRE |
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