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

We treated a 39-year-old Japanese man who was admitted for an abdominal mass. He had had neurofibroma-like skin lesions since childhood. CT 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.

本次收治1例因腹部肿块入院的39岁日本男性患者。该患者自幼即出现神经纤维瘤样皮肤皮损。计算机断层扫描（CT）与内镜超声（endoscopic ultrasound）检查结果均提示小肠内存在占位性病变。尽管单气囊小肠镜未探及该肿瘤，但结合患者病史与影像学结果，我们怀疑其为胃肠道间质瘤（gastrointestinal stromal tumor, GIST）。该患者同时符合1型神经纤维瘤（neurofibroma type 1, NF1）的诊断标准。我们为患者实施了肿瘤切除术，术后活检病理结果明确诊断为胃肠道间质瘤。临床接诊1型神经纤维瘤患者时，应考虑小肠源性胃肠道间质瘤的可能。