Neurofibromatosis Type 1 with the Development of Pheochromocytoma and Breast Cancer

A 40-year-old woman presented with a left adrenal incidentaloma. Based on the presence of café-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...

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Veröffentlicht in:Internal Medicine 2020/07/01, Vol.59(13), pp.1665-1669
Hauptverfasser: Lee, Yu Hee, Kwon, Min Jeong, Park, Jeong Hyun, Jeong, Su Jin, Kim, Tae Hyun, Jeong, Hae Woong, Lee, Soon Hee
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Sprache:eng
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Zusammenfassung:A 40-year-old woman presented with a left adrenal incidentaloma. Based on the presence of café-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 I-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.
ISSN:0918-2918
1349-7235
DOI:10.2169/internalmedicine.4148-19