Tsegaye Habtamu, Tigabu Adamu
Department of Radiology, School of medicine, college of medicine and health science, Bahir Dar University, Bahir Dar, Ethiopia.
Radiol Case Rep. 2024 Dec 24;20(3):1548-1551. doi: 10.1016/j.radcr.2024.11.094. eCollection 2025 Mar.
Neurofibromatosis type 1 (NF1) is characterized by café-au-lait patches on the skin and the presence of neurofibromas. Gastrointestinal stromal tumor (GIST) is the most common GI tumour in NF1 patients. In NF1-associated GIST, KIT and PDGFRA mutations are frequently absent and imatinib is ineffective. Surgical resection is first-line treatment. A 58-year-old woman present with dyspepsia symptoms and physical examination was notable for multiple café-au-lait patches and multiple subcutaneous nodular masses of the skin of the face, trunk, and limbs. Abdomininoplevic CT shows multiple different size avidly enhancing small bowel mass. The patient underwent laparotomy and resection with jejenu-jejunal anastomosis was done with smooth post op condition. Histopathology shows Grade I GIST with score 4+ immune reactivity for CD117. It is typically difficult to make a conclusive preoperative diagnosis of GISTs. Computed tomography of the abdomen should be done in Neurofibromatosis type 1 Patients with gastrointestinal symptoms as GISTs may be the cause of these symptoms. Surgical resection may also be performed for both diagnosis and treatment. The objective of this case repot is to describe the radiological feature of multiple GIST in elder NF1 patient in resource limited setup.
1型神经纤维瘤病（NF1）的特征是皮肤上有咖啡斑和存在神经纤维瘤。胃肠道间质瘤（GIST）是NF1患者中最常见的胃肠道肿瘤。在NF1相关的GIST中，KIT和PDGFRA突变通常不存在，伊马替尼无效。手术切除是一线治疗方法。一名58岁女性出现消化不良症状，体格检查发现面部、躯干和四肢皮肤有多个咖啡斑和多个皮下结节状肿块。腹盆腔CT显示多个大小不同的、明显强化的小肠肿块。患者接受了剖腹手术，进行了空肠-空肠吻合术，术后情况平稳。组织病理学显示为I级GIST，CD117免疫反应评分为4+。术前对GIST做出确定性诊断通常很困难。对于有胃肠道症状的1型神经纤维瘤病患者，应进行腹部计算机断层扫描，因为GIST可能是这些症状的原因。手术切除也可用于诊断和治疗。本病例报告的目的是描述在资源有限的情况下，老年NF1患者多发GIST的影像学特征。
