HPV Status and Mutation Analysis Using Multiparallel Sequencing in Distal Oesophageal and Gastro-oesophageal Junction Adenocarcinomas

Vošmik, M.; Vošmiková, H.; Sieglová, K.; Sirák, Igor; Laco, J.; Ryška, A.; Petera, J.; Melichar, B.; Soumarová, R.

doi:10.14712/fb2018064020041

Folia Biologica > Archive > 2018, Vol. 64 > Issue 2 > HPV Status and Mutation Analysis Using…

Fol. Biol. 2018, 64, 41-45

https://doi.org/10.14712/fb2018064020041

HPV Status and Mutation Analysis Using Multiparallel Sequencing in Distal Oesophageal and Gastro-oesophageal Junction Adenocarcinomas

M. Vošmik¹, H. Vošmiková², K. Sieglová², Igor Sirák¹, J. Laco², A. Ryška², J. Petera¹, B. Melichar³, R. Soumarová⁴

¹Department of Oncology and Radiotherapy, Charles University, Faculty of Medicine in Hradec Králové and University Hospital Hradec Králove, Hradec Králové, Czech Republic
²The Fingerland Department of Pathology, Charles University, Faculty of Medicine in Hradec Králové and University Hospital Hradec Králove, Hradec Králové, Czech Republic
³Department of Oncology, Palacký University, Faculty of Medicine and Dentistry and University Hospital Olomouc, Olomouc, Czech Republic
⁴Department of Radiotherapy and Oncology, Charles University, Third Faculty of Medicine and University Hospital Královské Vinohrady, Prague, Czech Republic

Received May 2018
Accepted May 2018

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 HPVpositive 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.

Keywords

gastro-oesophageal junction cancer, oesophageal cancer, adenocarcinoma, multiparallel sequencing, gene mutation, human papillomavirus.

Funding

The work was financially supported by the League Against Cancer, Prague, Ministry of Education, Youth and Sport of the Czech Republic: programme PROGRES Q40/06 and Q40/11, and European Regional Development Fund-Project BBMRI-CZ: Biobank network – a versatile platform for the research of the etiopathogenesis of diseases, No. EF16 013/0001674.