Malignant Pheochromocytoma in a Neurofibromatosis Type 1 Patient: A Case Report

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 37-82-Pheochromocytoma & Paraganglioma
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-59
Mônica Tourinho Almeida*, Camila Ribeiro Chiavoni, Madson Q Almeida, Ana Oliveira Hoff, Marcello D Bronstein, Jose Luiz Chambo, Silvia Soares, Maria Candida Barisson Villares Fragoso and Berenice Bilharinho Mendonca
Hospital das Clnicas, Faculdade de Medicina da Universidade de So Paulo
Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects approximately 1 in 3,000 individuals. It is characterized by cafè-au-lait macules, neoplastic growth of neural crest derived cells, Lisch nodules and dysplastic bone lesions. Pheochromocytomas occur in about 1 person per 100,000 adults per year in general population, with a higher incidence in patients with NF1, estimated between 0,1-0,5% and reaching 50% of those diagnosed with systemic hypertension. Metastatic disease is seen in 10%. Clinical Case: We report a 36-year-old male patient, admitted with history of NF1 and recently diagnosed with hypertension after 2 episodes of hypertensive emergencies. He also presented with nocturnal sweating, weight loss and fatigue. A 24-h urine testing revealed abnormally elevated norepinephrine levels. CT-scan showed a left congenital solitary kidney, a 7,9cm heterogeneous left adrenal mass infiltrating the kidney and a 4 cm single liver lesion. The patient was referred to our Hospital, and a MRI, 3 months after the first CT, depicted the adrenal mass with 14 cm in the largest diameter. Meta-iodo-benzylguanidine (¹²³I-MIBG) scintigraphy revealed an increased radiotracer uptake in left adrenal and also in liver lesion. Urinary and serum levels of norepinephrine were 852mcg/24h (normal range: 0-92mcg/24h) and 6462pg/mL (normal range: 40-268pg/mL), respectively. The patient underwent surgery, and unfortunately a nephrectomy was mandatory. In addition, splenectomy and distal pancreatectomy were required. The hemodyalisis treatment was started and the patient has a good tolerance. Pathological analysis was compatible with Pheochromocytoma of the Adrenal gland Scaled Score (PASS) of 12. A month later, he underwent resection of 2 liver lesions, with the confirmation of pheochromocytoma.  Norepinephrine levels and  ¹²³I-MIBG scan were normal after 2 months of the procedure.The patient is under clinical follow-up evaluations, presenting with mild hypertension. Conclusion: Since the incidence of pheochromocytoma in hypertensive NF1 patients reaches 50%, it is important to search for this diagnosis when evaluating a patient with these characteristics. In our case, we highlight the presence of congenital solitary kidney, a unique coincidence that led to a challenging treatment plan, including renal transplantation in the future if the disease remains under clinical control.

Nothing to Disclose: MTA, CRC, MQA, AOH, MDB, JLC, SS, MCBVF, BBM

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