Department of Urology, Stanford School of Medicine, Stanford, CA.
Baylor College of Medicine, Houston, TX.
Urology. 2020 Jul;141:e49-e50. doi: 10.1016/j.urology.2020.03.030. Epub 2020 Apr 11.
Genitourinary presentation of neurofibromatosis type 1 (NF-1) is rare, amongst which bladder involvement is the most common. Sporadic case reports do highlight infrequent external genitalia involvement in NF-1. We present a 21-year-old male with prior childhood history of partial cystectomy for an NF-1 related bladder tumor, who more recently presented with gross hematuria. Workup revealed multiple ganglioneuromas involving the bladder, prostate, and penis, and the patient underwent radical cystoprostatectomy and penile mass excision. Recurrences of previously excised urologic tumors or new tumors may appear many years later, and long-term monitoring of NF-1 patients with urologic involvement is necessary.
神经纤维瘤病 1 型（NF-1）的泌尿生殖系统表现较为罕见，其中膀胱受累最为常见。散发病例报告确实强调了 NF-1 中罕见的外生殖器受累。我们报告了一名 21 岁男性，他曾在儿童时期因 NF-1 相关膀胱肿瘤行部分膀胱切除术，最近出现肉眼血尿。检查发现多个神经节细胞瘤累及膀胱、前列腺和阴茎，患者接受了根治性膀胱前列腺切除术和阴茎肿块切除术。先前切除的泌尿系统肿瘤或新肿瘤的复发可能在数年后出现，因此需要对有泌尿系统受累的 NF-1 患者进行长期监测。
