Mezitis Spyros G E, Geller Mauro, Bocchieri Elisa, Del Pizzo Joseph, Merlin Scott
Department of Medicine, Division of Endocrinology, New York-Presbyterian Hospital/Weill-Cornell Medical Center, New York, NY, USA.
Endocr Pract. 2007 Oct;13(6):647-51. doi: 10.4158/EP.13.6.647.
To report a rare case of association of pheochromocytoma and ganglioneuroma in an asymptomatic patient with neurofibromatosis type 1 (NF1) and to discuss the importance of annual biochemical and imaging studies.
We present the clinical, laboratory, and pathology findings in a 41-year-old woman with NF1 and review the pertinent literature.
A 41-year-old woman with NF1 presented for a routine gynecologic examination, at which time a right adrenal mass (4 by 3 cm) was discovered by abdominal ultrasonography and confirmed by abdominal computed tomographic scans and magnetic resonance imaging. The patient was normotensive and complained only of discrete essential tremors. Biochemical studies showed a serum epinephrine level of 195 pg/mL (normal, <100) and a 24-hour urine epinephrine excretion of 55 microg (normal, <20), findings consistent with pheochromocytoma. Metaiodobenzylguanidine scintigraphy revealed uptake in the right adrenal gland, with no evidence of metastatic lesions. Before surgical treatment, the patient received an alpha-adrenergic antagonist for 30 days. Laparoscopic excision of the right adrenal gland yielded excellent postoperative results. Surgical pathology revealed a multinodular mass composed of pheochromocytoma and ganglioneuroma. In patients with NF1 (von Recklinghausen's disease), a tumor consisting of pheochromocytoma and ganglioneuroma is rare and may be more aggressive than pheochromocytoma alone. An asymptomatic catecholamine-producing tumor may cause substantial morbidity and mortality, especially in patients who are undergoing surgical intervention or are under other stressors.
The current guidelines for managing patients with NF1 are an annual history and physical examination. Because of the increased prevalence of pheochromocytoma and ganglioneuroma in patients with NF1, and the potential associated adverse effects, we emphasize the importance of periodic clinical evaluation with biochemical testing and imaging studies.
报告1例1型神经纤维瘤病（NF1）无症状患者合并嗜铬细胞瘤和神经节神经瘤的罕见病例，并探讨年度生化检查和影像学检查的重要性。
我们呈现了1例41岁NF1女性患者的临床、实验室及病理检查结果，并复习相关文献。
1例41岁NF1女性患者因常规妇科检查就诊，腹部超声发现右侧肾上腺肿块（4×3 cm），腹部计算机断层扫描和磁共振成像予以证实。患者血压正常，仅主诉有散在的特发性震颤。生化检查显示血清肾上腺素水平为195 pg/mL（正常，<100），24小时尿肾上腺素排泄量为55 μg（正常，<20），结果符合嗜铬细胞瘤。间碘苄胍闪烁扫描显示右侧肾上腺有摄取，无转移灶证据。手术治疗前，患者接受了30天的α-肾上腺素能拮抗剂治疗。腹腔镜下切除右侧肾上腺取得了良好的术后效果。手术病理显示为一个由嗜铬细胞瘤和神经节神经瘤组成的多结节肿块。在NF1（冯雷克林霍增氏病）患者中，由嗜铬细胞瘤和神经节神经瘤组成的肿瘤很罕见，且可能比单纯嗜铬细胞瘤更具侵袭性。无症状的儿茶酚胺分泌性肿瘤可能导致严重的发病率和死亡率，尤其是在接受手术干预或处于其他应激源下的患者中。
目前管理NF1患者的指南是每年进行病史和体格检查。由于NF1患者中嗜铬细胞瘤和神经节神经瘤的患病率增加，以及潜在的相关不良反应，我们强调定期进行临床评估并结合生化检测和影像学检查的重要性。
