Giacometti Cinzia, Gusella Anna, Cassaro Mauro
Pathology Unit, Department of Diagnostic Services, ULSS 6 Euganea, 35131 Padova, Italy.
Cancers (Basel). 2023 Dec 6;15(24):5725. doi: 10.3390/cancers15245725.
Barrett's esophagus (BE) was initially defined in the 1950s as the visualization of gastric-like mucosa in the esophagus. Over time, the definition has evolved to include the identification of goblet cells, which confirm the presence of intestinal metaplasia within the esophagus. Chronic gastro-esophageal reflux disease (GERD) is a significant risk factor for adenocarcinoma of the esophagus, as intestinal metaplasia can develop due to GERD. The development of adenocarcinomas related to BE progresses in sequence from inflammation to metaplasia, dysplasia, and ultimately carcinoma. In the presence of GERD, the squamous epithelium changes to columnar epithelium, which initially lacks goblet cells, but later develops goblet cell metaplasia and eventually dysplasia. The accumulation of multiple genetic and epigenetic alterations leads to the development and progression of dysplasia. The diagnosis of BE requires the identification of intestinal metaplasia on histologic examination, which has thus become an essential tool both in the diagnosis and in the assessment of dysplasia's presence and degree. The histologic diagnosis of BE dysplasia can be challenging due to sampling error, pathologists' experience, interobserver variation, and difficulty in histologic interpretation: all these problems complicate patient management. The development and progression of Barrett's esophagus (BE) depend on various molecular events that involve changes in cell-cycle regulatory genes, apoptosis, cell signaling, and adhesion pathways. In advanced stages, there are widespread genomic abnormalities with losses and gains in chromosome function, and DNA instability. This review aims to provide an updated and comprehensible diagnostic approach to BE based on the most recent guidelines available in the literature, and an overview of the pathogenetic and molecular mechanisms of its development.
巴雷特食管(BE)最初在20世纪50年代被定义为食管内出现类似胃黏膜的表现。随着时间的推移,其定义已发展为包括识别杯状细胞,杯状细胞的存在可证实食管内存在肠化生。慢性胃食管反流病(GERD)是食管腺癌的一个重要危险因素,因为GERD可导致肠化生。与BE相关的腺癌的发展依次经历炎症、化生、发育异常,最终发展为癌。在GERD存在的情况下,鳞状上皮会转变为柱状上皮,最初这种柱状上皮缺乏杯状细胞,但随后会发展为杯状细胞化生,最终出现发育异常。多种基因和表观遗传改变的积累导致发育异常的发生和进展。BE的诊断需要在组织学检查中识别肠化生,因此组织学检查已成为诊断以及评估发育异常的存在和程度的重要工具。由于取样误差、病理学家的经验、观察者间差异以及组织学解释的困难,BE发育异常的组织学诊断可能具有挑战性:所有这些问题都使患者管理变得复杂。巴雷特食管(BE)的发生和进展取决于各种分子事件,这些事件涉及细胞周期调控基因、细胞凋亡、细胞信号传导和黏附途径的变化。在晚期阶段,会出现广泛的基因组异常,包括染色体功能的缺失和增加以及DNA不稳定。本综述旨在根据文献中最新的指南提供一种更新且易于理解的BE诊断方法,并概述其发生的致病和分子机制。