Association of pheochromocytoma and ganglioneuroma: unusual finding in neurofibromatosis type 1.
OBJECTIVE
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.


METHODS
We present the clinical, laboratory, and pathology findings in a 41-year-old woman with NF1 and review the pertinent literature.


RESULTS
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.


CONCLUSIONS
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.
Mezitis
Spyros G E
SG
Department of Medicine, Division of Endocrinology, New York-Presbyterian Hospital/Weill-Cornell Medical Center, New York, NY, USA.
Geller
Mauro
M
Bocchieri
Elisa
E
Del Pizzo
Joseph
J
Merlin
Scott
S
D000310:Adrenal Gland Neoplasms / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D000311:Adrenal Glands / Q000000981:diagnostic imaging; D000328:Adult; D004837:Epinephrine / Q000097:blood; D005260:Female; D005729:Ganglioneuroma / Q000097:blood / Q000139:chemically induced / Q000175:diagnosis*; D006801:Humans; D009456:Neurofibromatosis 1 / Q000150:complications*; D010673:Pheochromocytoma / Q000097:blood / Q000150:complications / Q000175:diagnosis*; D011859:Radiography; D014463:Ultrasonography
D004837:Epinephrine