Ampullary adenocarcinoma in Neurofibromatosis Type 1. Case report and literature review

Periampullary tumors in patients affected by Neurofibromatosis Type 1 (NF-1 ) are usually carcinoids or stromal tumors and, rarely, adenocarcinomas. We report a case of an adenocarcinoma of the ampulla of Vater in a 54-year-ol d woman with NF-1 admitted to the hospital with jaundice and undergoing pan creato-duodenectomy. Histologically, the resected specimen showed an adenoc arcinoma of the ampulla as being a part of a complex atypical epithelial pr oliferation extended from the papilla to the mucosa of the duodenum and dis tal choledochus, islet-cell adenomatosis of the pancreas and multiple gastr ic, duodenal, jejunal stromal tumors. The ampullary and periampullary adeno carcinomas In NF-1 patients have peculiar features, suggesting a widespread predisposition to cancer development in periampullary tissues and requirin g widely demolitive surgery. Moreover, they occur at a younger age than tho se occurring in non-NF-1 patients, may be associated with additional periam pullary epithelial tumors, are often operable and may present long survival .