Journal article
The Landscape and Prognosis of Microsatellite Stable (MSS) Esophageal, Gastro-Esophageal Junction and Gastric Adenocarcinomas with High Tumor Mutation Burden (TMB)
Cancer investigation, Vol.42(8), pp.697-709
09/13/2024
DOI: 10.1080/07357907.2024.2388107
PMID: 39115206
Abstract
BackgroundA minority of patients with MSS tumors present a high tumor mutation burden (TMB) without underlying MMR defects.MethodsPublicly available genomic series were assessed for identification of patients with MSS gastric gastroesophageal junction, and esophageal adenocarcinomas and a high TMB, defined as more than 10 mutations per Mb. These were compared with MSS cancers and a low TMB for genetic alterations and for survival outcomes.ResultsPatients with MSS cancers with high TMB in the MSK series were older but did not differ in other clinicopathologic parameters compared with MSS patients with low TMB. Mutations in tumor suppressors TP53 and APC and oncogenes KRAS and ERBB4 as well as amplifications of ERBB2 were more prevalent in the high TMB group of MSS cancers. Mutations in DDR associated genes, in epigenetic modifiers and in genes associated with immune response were more prevalent in the hIgh TMB group patients. However, high TMB was not associated with an improved survival in MSS gastric/gastroesophageal junction/esophageal adenocarcinomas (Log Rank p = 0.5).ConclusionMSS Gastric/gastroesophageal junction/esophageal adenocarcinomas with TMB above 10 mutations per Mb possess a genomic landscape with increased alteration frequencies in common gastroesophageal cancer genes and pathways.
Details
- Title: Subtitle
- The Landscape and Prognosis of Microsatellite Stable (MSS) Esophageal, Gastro-Esophageal Junction and Gastric Adenocarcinomas with High Tumor Mutation Burden (TMB)
- Creators
- Ioannis A. Voutsadakis - Essar Steel Algoma
- Resource Type
- Journal article
- Publication Details
- Cancer investigation, Vol.42(8), pp.697-709
- Publisher
- Taylor & Francis
- DOI
- 10.1080/07357907.2024.2388107
- PMID
- 39115206
- ISSN
- 0735-7907
- eISSN
- 1532-4192
- Number of pages
- 13
- Language
- English
- Date published
- 09/13/2024
- Academic Unit
- Internal Medicine
- Record Identifier
- 9984806502202771
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