Deissová Tereza, Kala Zdeněk, Slabý Ondřej, Dolina Jiří, Kroupa Radek, Kunovský Lumír, Hollá Lydie Izakovičová, Linhartová Petra Bořilová
Vnitr Lek. 2020 Fall;66(7):13-19.
Gastroesophageal reflux disease (GERD) is a multifactorial disease; an individual´s genetic predisposition may contribute to the development of this disorder. Endoscopic methods and histological examination are commonly used to diagnose GERD and its complications such as Barretts esophagus (BE) and esophageal adenocarcinoma (EAC). For BE screening in high-risk individuals as well as monitoring the development of BE dysplasia, esophageal mucosa samples could be taken using modern non-endoscopic procedures to minimize invasiveness of the procedure and improve patient adherence and compliance with a treatment. Esophageal mucosa samples taken by non-endoscopic or endoscopic biopsy can be analyzed both by immunohistochemistry and molecular biology analysis for specific biomarkers. Markers such as caudal type homeobox 2 (CDX2) and protein p53 have found their use in GERD diagnosis, and therefore research in recent years has focused on identifying other biomarkers that could reliably predict the development and progression of BE or EAC. This review article summarizes information on modern non-endoscopic methods of sampling from the esophagus mucosa and biomarkers, which have been studied in connection with the prediction and diagnosis of BE and EAC and have a potential for the use in clinical practice.
胃食管反流病（GERD）是一种多因素疾病；个体的遗传易感性可能促使这种疾病的发生。内镜检查方法和组织学检查常用于诊断GERD及其并发症，如巴雷特食管（BE）和食管腺癌（EAC）。对于高危个体的BE筛查以及监测BE发育异常的进展情况，可以采用现代非内镜程序采集食管黏膜样本，以尽量减少该程序的侵入性，并提高患者对治疗的依从性和顺应性。通过非内镜或内镜活检采集的食管黏膜样本可通过免疫组织化学和分子生物学分析来检测特定的生物标志物。尾型同源盒2（CDX2）和p53蛋白等标志物已用于GERD的诊断，因此近年来的研究集中在识别其他能够可靠预测BE或EAC发生和进展的生物标志物。这篇综述文章总结了有关从食管黏膜采样的现代非内镜方法和生物标志物的信息，这些方法和生物标志物已针对BE和EAC的预测与诊断进行了研究，并且具有在临床实践中应用的潜力。
