Abstract

Abstract Aim The incidence of various single- nucleotide polymorphisms with reported malignant potential in esophageal cancer tissues has only sparsely been investigated in the west, as of today. The aim of our study was to investigate the contribution of four lncRNAs’ polymorphisms HOTAIR rs920778, LINC00951 rs11752942, POLR2E rs3787016 and HULC rs7763881c in esophageal carcinoma susceptibility. Background & Methods Formalin-Fixed Paraffin-Embedded (FFPE) tissue specimens from 95 consecutive patients operated for esophageal or gastro-esophageal junction carcinoma between 01/03/2014- 01/03/2019 were retrieved and processed. Clinical data concerning patients’ demographics, histopathological parameters, surgical, and oncological outcomes were also retrospectively collected from our prospective database. DNA findings concerning rs920778, rs11752942, rs3787016 and rs7763881 of the above mentioned population were compared with 121 healthy controls. Results Sixty-seven patients underwent Ivor Lewis or McKeown esophagectomy for either squamous cell esophageal carcinoma (n= 5) or adenocarcinoma of esophagus or gastroesophageal junction Siewert I or II (n= 62). Twenty-eight additional patients were subjected to total gastrectomy for gastroesophageal junction adenocarcinoma Siewert III. Neither HOTAIR rs920778 nor LINC00951 rs11752942 nor HULC rs7763881 polymorphism was found more frequently in esophageal cancer specimens in comparison to healthy subjects. On the contrary, the presence of C allele, as well as CC/TT genotypes of POLR2E rs3787016 were found more often in the control population, and when found in esophageal cancerous tissues it was associated with earlier stages of the disease, as well as with minor lymph node involvement and lesser metastatic potential. Conclusion The presence of POLR2E rs3787016 seems to be less common in esophageal cancer patients than healthy controls and is also associated with early stage disease. The clinical implications of this finding need to be clarified with further studies with larger sample size.

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