Hataya Yuji, Komatsu Yasato, Osaki Keisuke, Fukuda Yorihide, Sato Teruyuki, Morimoto Taisuke
Department of Endocrinology, Kyoto City Hospital, Japan.
Intern Med. 2012;51(12):1531-6. doi: 10.2169/internalmedicine.51.6385. Epub 2012 Jun 15.
Neurofibromatosis type 1 (NF1) is associated with benign and malignant neoplasms, but the coincidence of abdominal neoplasms is rare. A 65-year-old woman with NF1 had episodes of nausea, tachycardia, hypertension, and loss of consciousness. Bilateral adrenal tumors were detected by abdominal computed tomography, and plasma and urinary catecholamine levels were elevated. Open bilateral adrenalectomy and histological findings revealed bilateral pheochromocytomas (PCCs). Furthermore, malignant peripheral nerve sheath tumor (MPNST) and multiple gastrointestinal stromal tumors (GISTs) were incidentally found in the abdominal cavity. Early diagnosis of abdominal neoplasms in NF1 patients is important because of the risk of malignancy, organic complications and hemorrhagic-obstructive complications.
1型神经纤维瘤病（NF1）与良性和恶性肿瘤相关，但腹部肿瘤的巧合情况很少见。一名65岁的NF1女性患者出现恶心、心动过速、高血压和意识丧失发作。腹部计算机断层扫描检测到双侧肾上腺肿瘤，血浆和尿儿茶酚胺水平升高。开放性双侧肾上腺切除术及组织学检查结果显示为双侧嗜铬细胞瘤（PCC）。此外，在腹腔中偶然发现了恶性外周神经鞘瘤（MPNST）和多个胃肠道间质瘤（GIST）。由于存在恶性肿瘤、器官并发症和出血性梗阻性并发症的风险，NF1患者腹部肿瘤的早期诊断很重要。
