Multiple Small Bowel Gastrointestinal Stromal Tumors Associated with Neurofibromatosis Type 1 that Were Not Detected by Endoscopy: A Case Report

Satomi Saito; Teppei Omori; Shun Murasugi; Maria Yonezawa; Yukiko Takayama; Takeshi Ohki; Hiromi Onizuka; Yoji Nagashima; Katsutoshi Tokushige

doi:10.1159/000529340

Multiple Small Bowel Gastrointestinal Stromal Tumors Associated with Neurofibromatosis Type 1 that Were Not Detected by Endoscopy: A Case Report

Case Rep Gastroenterol. 2023 Mar 8;17(1):160-167. doi: 10.1159/000529340. eCollection 2023 Jan-Dec.

Authors

Satomi Saito¹, Teppei Omori¹, Shun Murasugi¹, Maria Yonezawa¹, Yukiko Takayama¹, Takeshi Ohki², Hiromi Onizuka³, Yoji Nagashima³, Katsutoshi Tokushige¹

Affiliations

¹ Institute of Gastroenterology, Department of Internal Medicine, Tokyo Women's Medical University, Tokyo, Japan.
² Institute of Gastroenterology, Department of Surgery, Tokyo Women's Medical University, Tokyo, Japan.
³ Department of Surgical Pathology, Tokyo Women's Medical University, Tokyo, Japan.

Abstract

We treated a 39-year-old Japanese man who was admitted for an abdominal mass. He had had neurofibroma-like skin lesions since childhood. Computed tomography and endoscopic ultrasound results were consistent with a tumor in the small intestine. Although the tumor was undetectable by single-balloon endoscopy, the patient's background and imaging results led us to suspect a gastrointestinal stromal tumor (GIST). He also met the diagnostic criteria for neurofibroma type 1 (NF1). We performed a surgical removal of the tumor, and the biopsy results led to a definitive diagnosis of GIST. Small bowel GISTs should be considered in cases of NF1.

Keywords: Balloon-assisted enteroscopy; Gastrointestinal stromal tumors; Neurofibromatosis; Neurofibrome type 1; Small bowel tumor.

Publication types

Case Reports