Malignant Pheochromocytoma and neurofibromatosis type 1
K. Osmani*a (Dr), S. Azzougb (Pr), F. Chentlib (Pr)
a Faculté de médecine d'Alger, service d'Endocrinologie et Maladies Métaboliques, CHU Bab El Oued, Alger, ALGÉRIE ; b Faculté de médecine d'Alger, service d'Endocrinologie et Maladies Métaboliques, CHU Bab El Oued, Algiers, ALGÉRIE
* ken_kallima@hotmail.com
Introduction:
Compared to normal population, patients with neurofibromatosis are at higher risk for the development of benign and malignant tumors. Pheochromocytomas are relatively rare in neurofibromatosis type 1 (NF1), and malignant ones are even rarer.
Aim of the presentation
Our aim was to report a malignant pheochromocytoma with multiple bone and medullary metastases in a patient with NF1.
Case report
A female patient aged 24 years old, whose father had a colonic cancer, consulted for abdominal pain and vomiting. Her clinical examination pleaded for NF 1 (multiple “café-au-lait” spots, and freckles in the underarms) without high blood pressure or other features. Radiological assessment discovered a right heterogeneous adrenal tumor measuring 6cm. Biochemical exploration showed normal urinary catecholamines, but MIBG scintigraphy pleaded for unilateral pheochromocytoma. A rapid work up for possible associations and metastases was negative. She was operated on and histological examination confirmed the diagnosis of pheochromocytoma with a Pass score of 4%. After surgery, although the adrenals were free of tumor, urinary catecholamines were very high and there were diffuse bone and medullary metastases with MIBG uptake. Chemotherapy and MIBG treatment are being considered.
Conclusion: The association of a malignant pheochromocytoma with neurofibromatosis type 1 although very rare should be known as pheochromocytoma and its metastases may be totally asymptomatic as in the presented case.
L’auteur n’a pas transmis de déclaration de conflit d’intérêt.