Lee Yu Hee, Kwon Min Jeong, Park Jeong Hyun, Jeong Su Jin, Kim Tae Hyun, Jeong Hae Woong, Lee Soon Hee
Department of Internal Medicine, College of Medicine, Inje University, Korea.
Department of Pathology, College of Medicine, Inje University, Korea.
Intern Med. 2020 Jul 1;59(13):1665-1669. doi: 10.2169/internalmedicine.4148-19. Epub 2020 Apr 9.
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.
一名40岁女性因左肾上腺偶发瘤就诊。基于其存在咖啡斑、皮肤神经纤维瘤及家族史，她被诊断为1型神经纤维瘤病（NF1）。肾上腺偶发瘤筛查显示去甲肾上腺素水平升高；左肾上腺肿块摄取了I-123间碘苄胍。她接受了左肾上腺切除术，术后诊断为嗜铬细胞瘤。一年后，左乳可触及肿块的活检结果提示为浸润性导管癌。该患者接受了新辅助化疗，随后进行了左乳保乳手术。我们在此报告一例罕见的NF1患者，其同时发生了嗜铬细胞瘤和乳腺癌。
