ABSTRACT

Esophageal cancer is the sixth most frequent cancer worldwide. Two distinct types of primitive epithelial neoplasm, squamous cell carcinoma (SCCE) and adenocarcinoma represent more than 95% of all esophageal cancers. More than 80% of esophageal cancers occur in developing countries, where the great majority is SCCE. The cellular and molecular natural history of esophageal cancers is poorly understood. The chapter discusses the data currently available on the molecular pathology of esophageal cancers and their temporal sequence. A hereditary basis of esophageal cancer has been described in the case of an extremely rare syndrome, tylosis, characterized by acute palmoplantar hypekeratosis. The use of genetic markers and immunohistochemistry has been of little use for the identification, diagnosis, or prognosis of esophageal cancers. In SCCE, the pattern of mutations shows wide variations according to the geographical origin of the tumor. Esophagitis, a benign, chronic inflammatory disease, seems to represent a risk factor for dysplasia.