Transcriptomic analysis of esophageal tissues and potential biomarkers for differential diagnostics of Barrett´s mucosa and esophageal adenocarcinoma

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Authors

BOŘILOVÁ LINHARTOVÁ Petra MLČŮCHOVÁ Natálie BÖHM Jan BRENEROVÁ Petra BARTOŇ Vojtěch MAJER Adam PAVLOVSKÝ Zdeněk KUNOVSKÝ Lumír KROUPA Radek DOLINA Jiří URBAN Ondřej NAVRÁTIL Vít HARUŠTIAK Tomáš LISCHKE Robert GROLICH Tomáš PROCHÁZKA Vladimír IZAKOVIČOVÁ HOLLÁ Lydie ZAPLETALOVÁ Martina LOCHMAN Jan SLABÝ Ondřej BUDINSKÁ Eva KALA Zdeněk

Year of publication 2023
Type Conference abstract
MU Faculty or unit

Faculty of Science

Citation
Description Barrett’s esophagus (BE) is?considered a precancerous condition?increasing the risk of esophageal adenocarcinoma (EAC) development. This study aimed to find biomarkers with the potential for differential diagnostics of BE and EAC. This pilot study comprised 24 endoscopically examined subjects, namely 12 patients with BE and 12 with?EAC. Paired esophageal tissue samples (with the main pathology and adjacent tissue, paraffin-embedded) were histopathologically examined and the presence of CDX2, a diagnostic biomarker for BE//EAC, was immunohistochemically determined using a specific antibody. RNA was isolated from the paired fresh-frozen esophageal tissues, RNAseq library was prepared, and a single-read RNAseq (1x75) was conducted using an Illumina NovaSeq 6000 System. After?rRNA removal?and?mapping?to?human reference, we obtained 2x 27.5-184 mil. reads per sample. Compared to EAC tissues, we observed a downregulation of the hallmark pathway for angiogenesis and an upregulated hallmark pathway for bile acid metabolism in BE (p<0.01). CDX2 protein and CDX2 gene were highly expressed in tissues with the main pathology in comparison to the adjacent tissue from both BE and EAC patients (p<0.001). On the other hand, the expression of MUC2 (mucin 2) as well as ACER2 (alkaline ceramidase 2) were upregulated in the BE tissue, and among others, TFPI2 (tissue factor pathway inhibitor 2) was downregulated in BE vs EAC tissues (p<0.001). In line with the literature, we confirmed that MUC2 is expressed in BE but not in EAC tissues. It has, therefore, the potential to serve as a biomarker of both differential diagnosis and/or prognosis.
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