Gastrointestinal Stromal Tumors of Neurofibromatosis Type I: A Case Report

Abstract

Von Recklinghausen’s disease  or neurofibromatosis type 1 is an autosomal dominant condition that affects the central nervous system. A 52-year-old female with known Von Recklinghausen's disease (VRD) presented with abdominal pain. A physical examination found  multiple cutaneous and subcutaneous nodules and Café-au-lait pigmentation all over the body. A CT scan of the abdomen showed heterogeneously  abdominal mass.she underwent surgical resection. Pathological diagnosis and immunohistochemical was gastrointestinal stromal tumor. GISTs represent the most common gastrointestinal manifestation of  NF1,  sporadic GISTs arise predominantly in the stomach, about  90% of  Von Recklinghausen’s disease  Patients have a tendency to develop  GISTs wich located in the small intestine usually in the jejunum and characterized by their tendency for multiplicity. Gastrointestinal stromal tumors associated Von Recklinghausen’s disease has been described to comprise a minority of cases, We report a clinical case of the association of GIST with NF1 in whom surgical resection was performed.