4.2 Article

Neurofibromatosis Type 1 with the Development of Pheochromocytoma and Breast Cancer

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INTERNAL MEDICINE
卷 59, 期 13, 页码 1665-1669

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JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.4148-19

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neurofibromatosis type 1; pheochromocytoma; breast cancer

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A 40-year-old woman presented with a left adrenal incidentaloma. Based on the presence of cafe-au-lait spots, cutaneous neurofibroma, and family history, she was diagnosed with neurofibromatosis type 1 (NF1). Adrenal incidentaloma screening showed an elevated normetanephrine level; the left adrenal mass showed the uptake of 1-123 meta-iodobenzylguanidine. She underwent left adrenalectomy, and pheochromocytoma was diagnosed. One year later, the results of a biopsy of a palpable mass in the left breast suggested invasive ductal carcinoma. The patient underwent neoadjuvant chemotherapy followed by left breast-conserving surgery. We herein report a rare case of an NF1 patient who developed both pheochromocytoma and breast cancer.

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