A case of neuroendocrine tumor (NET) of the ampulla of Vater and gastrointestinal stromal tumor (GIST) of duodenum with neurofibromatosis type 1 (NF1)

Abstract

We describe the case of a 71-year-old woman with neurofibromatosis type-1 (NF1) diagnosed with a neuroendocrine tumor (NET) of the ampulla of Vater and a gastrointestinal stromal tumor (GIST) of the duodenum. The patient was admitted to our hospital and presented with multiple cutaneous neurofibromas and café-au-lait spots on the face and body. Esophagogastroduodenoscopy revealed an exposed protruding tumor of the Vater and a submucosal tumor in the descending part of the duodenum. CT showed both tumors, but somatostatin receptor scintigraphy visualized no tumor in the duodenum. The patient was diagnosed with NET of the Vater and GIST of the duodenum based on histopathological examination of biopsy specimens, and subsequently underwent subtotal stomach-preserving pancreaticoduodenectomy with regional lymph node dissection. Histopathological examination after the procedure confirmed NET (G1) of the Vater with lymph node metastases and GIST of the duodenum.