Goblet Cell Carcinoid of the Rectum in a Patient with Neurofibromatosis Type 1

Abstract

Patients with neurofibromatosis type 1 (NF-1) have rarely been reported to present with intraabdominal tumors including neuroendocrine tumors (NETs) and gastrointestinal stromal tumor (GIST), besides diagnostic features of cafe au lait macules, axillary or inguinal freckling, optic nerve gliomas, Lisch nodules, or neurofibromas. 1 Specifically, the co-existence of periampullary NET and GIST has been suggested to be an indirect evidence for undisclosed NF-1. Herein, we report a NF-1 patient who presented with a combination of goblet cell carcinoid (GCC), NETs, and neurofibromatosis in the rectum, as well as a GIST in the jejunum.