Collins Katrina, Al-Obaidy Khaleel, Warmke Laura, Cary Clint, Chen Shaoxiong
Department of Pathology, Indiana University Indianapolis, IN 46202, USA.
Department of Urology, Indiana University Indianapolis, IN 46202, USA.
Am J Clin Exp Urol. 2021 Oct 15;9(5):403-412. eCollection 2021.
Amyloidosis is a disease characterized by extracellular deposition of amyloid protein fibrils in tissues. It rarely involves the urethra with just over 50 cases reported in the English language literature. We report a case of urethral amyloidosis that mimicked urothelial carcinoma clinically. The patient is a 69-year-old male who presented to the emergency department with shortness of breath. An abdominal CT scan demonstrated a right hydronephrotic kidney and a large, predominantly hyperdense lesion, presumed to be hematoma largely occupying the urinary bladder. Pan-cystoscopy revealed a 6 cm bladder mass involving the prostatic urethra displacing the right ureteral orifice, which was biopsied. Histologic examination showed numerous osteoclast-type giant cells, with areas of extensive calcification and multifocal ossification interspaced by large deposits of amorphous eosinophilic material. Amyloid deposition was confirmed by Congo red and sulfated Alcian blue stains. Light chromatography tandem mass spectrometry was performed and detected multiple types of proteins including serum amyloid P component, apolipoprotein A4, and apolipoprotein E; however, a dominant amyloid type was not identified. The patient had no history of infection or localized inflammation. Further investigations for systemic amyloidosis were all negative. Amyloidosis of the urethra is extremely rare and may either be localized, idiopathic or a manifestation of systemic amyloidosis. Physicians among various specialties, including urologists, pathologists and radiologists should be aware of this rare entity, as this lesion may be easily mistaken for malignancy further emphasizing the importance of tissue diagnosis before definitive surgery. Long-term follow-up in the absence of symptoms may not be required.
淀粉样变性是一种以淀粉样蛋白原纤维在组织细胞外沉积为特征的疾病。它很少累及尿道,英文文献中报道的病例仅有50多例。我们报告一例临床上酷似尿路上皮癌的尿道淀粉样变性病例。患者为69岁男性,因气短就诊于急诊科。腹部CT扫描显示右肾积水,膀胱内有一较大的、以高密度为主的病变,推测为血肿,大部分占据膀胱。全膀胱镜检查发现一个6厘米的膀胱肿物累及前列腺尿道,使右侧输尿管口移位,并对其进行了活检。组织学检查显示有大量破骨细胞型巨细胞,伴有广泛钙化区域和多灶性骨化,其间夹杂着大量无定形嗜酸性物质沉积。刚果红和硫酸阿尔辛蓝染色证实有淀粉样沉积。进行了液相色谱串联质谱分析,检测到多种蛋白质,包括血清淀粉样P成分、载脂蛋白A4和载脂蛋白E;然而,未确定主要的淀粉样类型。患者无感染或局部炎症病史。进一步的系统性淀粉样变性检查均为阴性。尿道淀粉样变性极为罕见,可能是局限性的、特发性的或系统性淀粉样变性的一种表现。包括泌尿科医生、病理科医生和放射科医生在内的各专业医生都应了解这种罕见疾病,因为这种病变很容易被误诊为恶性肿瘤,这进一步强调了在确定性手术前进行组织诊断的重要性。无症状时可能无需长期随访。