HPV Status and Mutation Analysis Using Multiparallel Sequencing in Distal Oesophageal and Gastro-oesophageal Junction Adenocarcinomas
Language English Country Czech Republic Media print
Document type Journal Article
PubMed
30338755
DOI
10.14712/fb2018064020041
PII: file/5867/fb2018a0007.pdf
Knihovny.cz E-resources
- MeSH
- Adenocarcinoma genetics virology MeSH
- Adult MeSH
- Gene Frequency genetics MeSH
- Esophagogastric Junction pathology virology MeSH
- Middle Aged MeSH
- Humans MeSH
- Mutation genetics MeSH
- DNA Mutational Analysis * MeSH
- Esophageal Neoplasms genetics virology MeSH
- Papillomaviridae genetics MeSH
- Aged MeSH
- High-Throughput Nucleotide Sequencing * MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
The incidence of adenocarcinoma of oesophagus or gastro-oesophageal junction is increasing in Europe and other regions of the Western world. Research of possible causes has shifted to the molecular level. This study evaluated human papillomavirus (HPV) using real-time PCR and mutational status of selected genes using the multiparallel sequencing method (NGS) in DNA extracted from paraffin-embedded tumour tissue of 56 patients with oesophageal or gastro-oesophageal junction adenocarcinoma. The genetic material was in sufficient quality for the analysis in 37 cases (66 %). No HPV-positive sample was found. NGS revealed higher frequency of mutations in TP53, ARID1A, PIK3CA, SMAD4, ERBB2, MSH6, BRCA2, and RET genes. Association between gene mutations and histological grade, subtype according to Lauren, or primary tumour site was not statistically significant. In conclusion, the study did not confirm any HPV-positive sample of oesophageal and gastro-oesophageal junction adenocarcinoma. The study confirmed the usefulness of NGS analysis of paraffin-embedded tissue of these tumours, and it could be used in clinical studies to evaluate the prognostic and/or predictive value of the tested mutations. The association between gene mutations and histological features should be tested in larger patient cohorts.
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