Bakker Jennifer R, Haber Marian M, Garcia Fernando U
Department of Surgery, Graduate Hospital, Philadelphia, Pennsylvania 19146, USA.
Am Surg. 2005 Feb;71(2):100-5.
Neurofibromatosis type-1 (NF-1), also known as von Recklinghausen disease, is a common autosomal dominant condition occurring in approximately 1/3000 births. NF-1 is known to be associated with gastrointestinal neoplasms in 2-25 per cent of patients. We report the first case of gastric outlet obstruction with perforation caused by neurofibroma in a patient with NF-1. The literature is reviewed, examining 61 previously reported cases of noncarcinoid gastrointestinal (GI) neoplasms in patients with NF-1 for symptoms, location, and types of neoplasms. Neoplasms were located most often in the small intestine (72%). Neurofibromas, found in 52 per cent of patients, were the most frequently diagnosed benign neoplasms followed by leiomyomas (13%), ganglioneurofibromas (9.8%), and gastrointestinal stomal tumor (GIST) (6.5%). Adenocarcinoma was present in 23 per cent of patients. Patients with NF-1 and GI symptoms are at risk for gastrointestinal neoplasms from which symptomatic patients are likely to experience significant morbidity.
1型神经纤维瘤病（NF-1），也称为冯雷克林霍增氏病，是一种常见的常染色体显性遗传病，发病率约为1/3000。已知2%-25%的NF-1患者会发生胃肠道肿瘤。我们报告了首例NF-1患者因神经纤维瘤导致胃出口梗阻并穿孔的病例。本文回顾了相关文献，研究了先前报道的61例NF-1患者非类癌性胃肠道（GI）肿瘤的症状、位置和肿瘤类型。肿瘤最常发生于小肠（72%）。52%的患者被诊断为神经纤维瘤，是最常见的良性肿瘤，其次是平滑肌瘤（13%）、神经节神经纤维瘤（9.8%）和胃肠道间质瘤（GIST）（6.5%）。23%的患者患有腺癌。有胃肠道症状的NF-1患者有发生胃肠道肿瘤的风险，有症状的患者可能会出现严重的发病率。
