Neurofibromatosis type 1 with three synchronous tumors

Abstract

AbstractNeurofibromatosis type 1, resulting from dominantly inherited mutations affecting neurofibromin, is among the most common human genetic syndromes associated with many neurocutaneous manifestations. Neoplasms, neurogenic and non-neurogenic, are frequent, as are the gastrointestinal manifestations. Gastrointestinal tumors and vasculopathy are well-reported in individuals with neurofibromatosis type 1. A combination of somatostatioma and gastrointestinal stromal tumor is considered pathognomonic. We here report a case of neurofibromatosis type 1 with a triad of distinct neoplasms: gastrointestinal stromal tumor, neuroendoscrine tumor, and intra-ampullary papillary-tubular neoplasm. The trilogy of these neoplasms is unique and, to our knowledge, has never been reported in the literature. The report also emphasizes the role of advanced immunochemical staining in day-to-day practice, which has improved diagnostic accuracy and yield.