1 型神经纤维瘤病是一种遗传性疾病，通常与嗜铬细胞瘤相关，但很少与恶性嗜铬细胞瘤相关。 1 型神经纤维瘤病通常与骨病变相关，这使得恶性和良性肿瘤的区分变得复杂。一名 46 岁男性，有 1 型神经纤维瘤病病史，表现为右腹疼痛。计算机断层扫描显示右侧肾上腺有肿瘤，间碘苄胍闪烁扫描显示右侧肾上腺和胸椎积聚。他被诊断患有嗜铬细胞瘤，并进行了右肾上腺切除术。手术后，对脊柱病变进行骨活检，确认嗜铬细胞瘤转移，提示放疗。此后出现肺、肝转移，开始环磷酰胺、长春新碱、达卡巴嗪化疗；然而，病情进展，手术后 11 个月他去世了。我们报告了一例与 1 型神经纤维瘤病相关的恶性嗜铬细胞瘤病例，其中骨转移难以诊断。© 2024 作者。约翰·威利 (John Wiley) 出版的 IJU 病例报告

Neurofibromatosis type 1 is a hereditary condition often associated with pheochromocytomas but rarely with malignant pheochromocytomas. Neurofibromatosis type 1 is often associated with bone lesions, which complicates the distinction between malignant and benign tumors.A 46-year-old man with a medical history of neurofibromatosis type 1 presented with right abdominal pain. Computed tomography revealed a right adrenal tumor, and metaiodobenzylguanidine scintigraphy showed accumulation in the right adrenal gland and thoracic vertebrae. He was diagnosed with pheochromocytoma, and a right adrenalectomy was performed. After surgery, a bone biopsy was conducted on the spinal lesion, confirming metastasis of pheochromocytoma, prompting irradiation. After that, lung and liver metastases emerged, and chemotherapy with cyclophosphamide, vincristine, and dacarbazine was initiated; however, the disease progressed, and he died 11 months after surgery.We report a case of malignant pheochromocytoma associated with neurofibromatosis type 1 in which bone metastasis was difficult to diagnose.© 2024 The Author(s). IJU Case Reports published by John Wiley & Sons Australia, Ltd on behalf of Japanese Urological Association.