Programa de Carcinogênese Molecular, Instituto Nacional de Câncer, Rio de Janeiro/RJ, Brazil.
Biosci Rep. 2013 Aug 14;33(4):e00057. doi: 10.1042/BSR20130063.
EC (oesophageal cancer) is one of the ten most frequent and fatal tumours worldwide and ESCC (oesophageal squamous cell carcinoma) accounts for about 80% of the cases. The first symptoms of ESCC arise late during the progression of the disease and, therefore, the diagnosis is usually done in advanced stages. This leads to an inefficient treatment and consequently to a poor prognosis. Thus, a comprehensive knowledge of ESCC biology is of major importance to identify risk factors, especially in high-incidence areas and biomarkers which could enable ESCC prevention and interventions throughout the natural history of the disease. In this review, we present the current knowledge regarding ESCC aetiology as well as the different genetic and epigenetic alterations already described in this tumour. We also discuss how these alterations could be used to anticipate ESCC diagnosis as well as how they can help improving treatment. A molecular natural history of the disease is proposed pointing out potential markers that may improve interventions at different points of ESCC development. Only when the different layers of complexity behind this tumour are elucidated, it will be possible to successfully perform prevention at different levels.
食管癌（EC）是全球最常见和最致命的肿瘤之一，其中食管鳞状细胞癌（ESCC）约占病例的 80%。ESCC 的最初症状出现在疾病进展的晚期，因此诊断通常在晚期进行。这导致治疗效果不佳，预后不良。因此，全面了解 ESCC 生物学对于确定风险因素至关重要，特别是在高发地区和生物标志物方面，这些标志物可以在疾病的自然史的各个阶段实现 ESCC 的预防和干预。在这篇综述中，我们介绍了 ESCC 病因学的最新知识，以及已经在这种肿瘤中描述的不同遗传和表观遗传改变。我们还讨论了这些改变如何用于预测 ESCC 诊断，以及它们如何有助于改善治疗。提出了一种疾病的分子自然史，指出了可能改善 ESCC 不同发展阶段干预的潜在标志物。只有当阐明了这种肿瘤背后的不同复杂性层次，才有可能在不同层面上成功地进行预防。
