Esophageal squamous cell carcinoma (ESCC) remains the most common malignancy of the esophagus worldwide. Environmental and lifestyle exposures such as alcohol and tobacco have been well defined in the pathogenesis of ESCC, acting in concert with cell intrinsic epigenomic, genomic and transcriptomic changes. However, a variety of nonenvironmental etiologies including Fanconi anemia, lichen planus, chronic mucocutaneous candidiasis, esophageal epidermoid metaplasia, epidermolysis bullosa, tylosis, esophageal atresia, and achalasia receive minimal attention despite a high risk of ESCC in these diseases. The goal of this review was to promote clinical recognition and suggest a diagnostic framework for earlier detection of ESCC in patients with these rare diseases. In all the discussed conditions, a change in symptoms should trigger a prompt endoscopic evaluation, and endoscopic surveillance programs with advanced imaging techniques and chromoendoscopy should be considered. Moreover, we leverage the convergence of these diseases on ESCC to identify common mechanisms underlying malignant transformation including aberrant proliferation, mucosal barrier dysfunction, increased inflammation, and genome instability. In this study, we summarize the clinical presentation, pathologic findings, potential screening strategies, and common mechanisms of malignant transformation associated with these rare diseases that drive ESCC.

中文翻译：

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罕见亚型非经典食管鳞状细胞癌的临床和生物学观点。


食管鳞状细胞癌 （ESCC） 仍然是全球最常见的食管恶性肿瘤。在 ESCC 的发病机制中，酒精和烟草等环境和生活方式暴露已明确定义，与细胞内在的表观基因组、基因组和转录组变化协同作用。然而，尽管这些疾病的 ESCC 风险很高，但各种非环境病因，包括 Fanconi 贫血、扁平苔藓、慢性皮肤黏膜念珠菌病、食管表皮样化生、大疱性表皮松解症、tylosis、食管闭锁和贲门失弛缓症，受到的关注很少。本综述的目的是促进临床识别，并为这些罕见疾病患者早期检测 ESCC 提出诊断框架。在所有讨论的疾病中，症状的变化应触发及时的内窥镜评估，并应考虑采用先进成像技术和色素内镜检查的内窥镜监测计划。此外，我们利用这些疾病在 ESCC 上的汇聚来确定恶性转化的常见机制，包括异常增殖、粘膜屏障功能障碍、炎症增加和基因组不稳定。在这项研究中，我们总结了与这些驱动 ESCC 的罕见疾病相关的临床表现、病理发现、潜在的筛查策略和恶性转化的常见机制。