Department of Gastroenterology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Department of Surgery, University Hospital Brno, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Diagn Pathol. 2019 Jul 13;14(1):77. doi: 10.1186/s13000-019-0848-7.
Neurofibromatosis type-1 (NF1), also called von Recklinghausen disease, is a rare genetic disease which can lead to the development of benign or even malignant tumors. NF1 is mostly diagnosed in children or early adolescents who present with clinical symptoms. A curative therapy is still missing and the management of NF1 is based on careful surveillance. Concerning tumors which affect the gastrointestinal tract in patients with NF1, the most common is a gastrointestinal stromal tumor (GIST).
We present a case of a 58-year-old adult patient with dyspeptic symptoms who was incidentally diagnosed with triple malignancy (pheochromocytoma, multiple GISTs of small intestine and an ampullary NET) as a first manifestation of NF1. The patient underwent surgical treatment (adrenalectomy and pancreaticoduodenectomy) with no complications and after 2 years remains in oncological remission.
NF1 is a rare genetic disease which can cause various benign or malignant tumors. The coincidence of GIST and NET is almost pathognomonic for NF1 and should raise a suspicion of this rare disorder in clinical practice.
神经纤维瘤病 1 型（NF1），又称 von Recklinghausen 病，是一种罕见的遗传性疾病，可导致良性甚至恶性肿瘤的发展。NF1 主要在出现临床症状的儿童或青少年中诊断。目前仍然缺乏治愈性治疗方法，NF1 的管理基于仔细的监测。对于影响 NF1 患者胃肠道的肿瘤，最常见的是胃肠道间质瘤（GIST）。
我们报告了一例 58 岁成年患者，有消化不良症状，偶然诊断为三重恶性肿瘤（嗜铬细胞瘤、小肠多发 GIST 和壶腹神经内分泌肿瘤），为 NF1 的首发表现。患者接受了手术治疗（肾上腺切除术和胰十二指肠切除术），无并发症，2 年后仍处于肿瘤缓解期。
NF1 是一种罕见的遗传性疾病，可导致多种良性或恶性肿瘤。GIST 和 NET 的同时发生几乎是 NF1 的特征性表现，在临床实践中应怀疑这种罕见疾病。
