Primary Amyloidosis of the Genitourinary Tract

Abstract

Context.— Amyloidosis is caused by the deposition of misfolded proteins as insoluble eosinophilic material in the extracellular tissues of the body, leading to impairment of organ function. It can be systemic or localized. Localized genitourinary tract amyloidosis is rare and can be incidentally seen; however, in some cases, it can be the only presenting disease. Objective.— To review the clinical presentation and pathologic findings related to primary amyloidosis of the urogenital system and highlight some of the associated pathologic findings based on our personal experience. Data Sources.— Published peer-reviewed literature and personal experience of the senior author. Conclusions.— Primary localized amyloidosis within the urogenital tract can present as a neoplastic process and may be clinically and radiologically considered as a mass. Awareness of primary amyloidosis by pathologists and clinicians is required for accurate diagnosis and proper patient management.

Primary localized amyloidosis of the ureter with osseous metaplasia presenting as a suspicious ureteral mass

“…Primary localized amyloidosis in the ureter is a rare entity caused by extracellular deposition of insoluble fibrillary protein that may result in severe organ dysfunction. 1 Amyloidosis is classified based on the type of the involved amyloidogenic protein or based on tissue distribution. 1 Primary amyloidosis is usually defined as amyloid immunoglobulin light chain disease that could involve different organs typically affecting the skin, soft tissues, genitourinary system, respiratory system, and gastrointestinal tract.…”

“… 1 Amyloidosis is classified based on the type of the involved amyloidogenic protein or based on tissue distribution. 1 Primary amyloidosis is usually defined as amyloid immunoglobulin light chain disease that could involve different organs typically affecting the skin, soft tissues, genitourinary system, respiratory system, and gastrointestinal tract. Primary amyloidosis of the genitourinary tract is rare and most reported in the bladder and the prostate.…”

“…Primary localized amyloidosis of the ureter is a rare disease that is clinically and radiographically difficult to distinguish from urothelial carcinoma. 1 It occurs predominantly in females. 1 The mean age at diagnosis is 58 years and most patients present with flank pain or hematuria.…”

“… 1 It occurs predominantly in females. 1 The mean age at diagnosis is 58 years and most patients present with flank pain or hematuria. The majority of ureteric involvement (up to 60% of cases) was reported in the lower ureter, followed by the upper portion according to a report by Ding et al 2 Only 50 cases of primary ureteric amyloidosis have been reported since it was first described in 1937.…”

Bladder triangle amyloidosis: A case report and literature review

“…Because there was no systemic disease, no other predisposing factors, and no family history, the patient was diagnosed with primary localized lower urinary tract amyloidosis. Studies have reported that cystoscopy can detect multiple localized, slightly yellow polypoid disease, mucosal spotted hemorrhage, ulcer formation, [14] and papillary lesions. [15] However, these were not observed in the present case.…”