Esophageal Cancer: An Updated Review

Michael DiSiena, MD; Alexander Perelman, DO; John Birk, MD; Houman Rezaizadeh, MD


South Med J. 2021;114(3):161-168. 

In This Article

Pathogenesis of EC

The precursor lesion for SCC is esophageal squamous dysplasia. Endoscopically it appears as a polypoid outgrowth or plaque. The most common location is in the proximal or mid-esophagus. It appears that the common affected genes leading to SCC are the tumor suppressor gene p53 and NOTCH1 (NOTCH1 mutations observed in SCC affect the epidermal growth factor-like ligand-binding domain and are thought to lead to a loss of downregulation function).[55] In AC, there appears to be a stepwise accumulation of mutations (p16 and p53) leading to aneuploidy, activation of K-RAS, and increased expression of endothelial growth factor. ACs tend to be in the distal esophagus near the gastroesophageal junction. Early lesions can endoscopically present as ulcers, nodules, or altered mucosa of cells with intestinal-type features with mucin production.[56,57]