A case of neurofibromatosis type 1 with malignant peripheral nerve sheath tumor and metastatic pheochromocytoma.
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A 58-year-old man had multiple cutaneous neurofibromas since childhood; however, these were not evaluated. Two months prior, he developed bloody sputum and cough. Computed tomography revealed multiple masses throughout the body, including bilateral adrenal glands. The right adrenal mass was diagnosed as a pheochromocytoma via biopsy. The urinary metanephrine levels were extremely high. Iodine-123 metaiodobenzylguanidine (123I-MIBG) scintigraphy revealed uptake only in the right adrenal gland, liver, and lungs. He developed heart failure 1 month prior and was transferred to our hospital because of the deterioration of his general condition. Based on the 123I-MIBG scintigraphy findings and cutaneous neurofibromas, the patient was clinically diagnosed with metastatic pheochromocytoma associated with neurofibromatosis type 1 (NF1). He received palliative care because aggressive treatment was not feasible owing to his poor condition. The patient died 1 month later. Autopsy revealed metastases from the right adrenal pheochromocytoma to the liver and lungs. Additionally, malignant peripheral nerve sheath tumors were found in the left adrenal gland, lungs, left humeral diaphysis, and perineum, and a gastrointestinal stromal tumor was found adjacent to the small intestine. Patients with NF1 may have multiple types of tumors simultaneously, which should be considered when making a diagnosis.