1型神经纤维瘤病（冯·雷克林豪森病）患者空肠的胃肠道间质瘤（GIST）
[Gastrointestinal stromal tumours (GIST) of the jejunum in a patient with neurofibromatosis type 1 (von Recklingshausen's disease)].
作者信息
Köppen S, Wejda B, Dormann A, Hoffmeister D, Stolte M, Huchzermeyer H
机构信息
Medizinische Klinik, Klinikum Minden.
出版信息
Z Gastroenterol. 2004 Oct;42(10):1183-7. doi: 10.1055/s-2004-813587.
CASE REPORT
A 72-year-old female patient with known neurofibromatosis type 1 was admitted to the hospital with symptomatic anaemia and a history of melaena. Upper and lower endoscopy did not show any signs of bleeding. Ultrasound and computed tomography revealed an abdominal mass. The histological analysis of a US-guided puncture showed a mesenchymal tumour with spindle-shaped appearance. Laparotomy revealed two jejunal tumours which could be classified as gastrointestinal stromal tumours (GIST) by immunohistochemistry.
CONCLUSION
Patients with neurofibromatosis type 1 have an increased risk of developing gastrointestinal tumours including rare types such as GIST. Because the localisation in the small intestine by conventional endoscopy can be difficult, further diagnostic means such as ultrasound, computed tomography or possibly capsule endoscopy should be considered.
病例报告
一名72岁的已知患有1型神经纤维瘤病的女性患者因出现症状性贫血及黑便病史入院。上下消化道内镜检查未发现任何出血迹象。超声和计算机断层扫描显示腹部有肿块。超声引导下穿刺的组织学分析显示为梭形外观的间叶性肿瘤。剖腹探查发现两个空肠肿瘤，经免疫组织化学检查可归类为胃肠道间质瘤（GIST）。
结论
1型神经纤维瘤病患者发生胃肠道肿瘤（包括GIST等罕见类型）的风险增加。由于通过传统内镜检查定位小肠病变可能困难，应考虑进一步的诊断手段，如超声、计算机断层扫描或可能的胶囊内镜检查。
Zotero 插件