Amyloidosis of the bladder and association with urothelial carcinoma: report of 29 cases

Sirohi, Deepika; Gandhi, Jatin; Amin, Mahul B.; Luthringer, Daniel

doi:10.1016/j.humpath.2019.08.011

Cited by 11 publications

(13 citation statements)

References 26 publications

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“…Most ATTR amyloidosis patients are elderly men, and both urinary bladder and prostate are frequently biopsied sites in older men. Up to 83% of ATTR patients have urinary tract dysfunction, 12 and ATTR may be a common amyloid type in urinary bladder 13 . Also, approximately 10% of prostate biopsies from random populations and 25% from adenocarcinoma patients contain Congo red (CR)‐positive amyloid deposits 14 …”

Section: Introductionmentioning

confidence: 99%

Non‐cardiac biopsy sites with high frequency of transthyretin amyloidosis

et al. 2020

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Aims Cardiac scintigraphy, a non-invasive technique for diagnosing ATTR cardiac amyloidosis, lacks specificity in patients with concomitant monoclonal gammopathy (up to 40% of cases). For these patients, amyloid type is often established by endomyocardial biopsy (EMB), which has clinical risk. This study aimed to investigate the frequency of ATTR in amyloid-positive tendon/synovium, urinary bladder, and prostate biopsies, sites for which prior biopsy specimens might exist for patients suspected of having cardiac amyloidosis, and, when available, determine the amyloid type concordance rate with other anatomic sites and provide clinical data regarding subsequent development of cardiac amyloidosis. Methods and results We queried our reference laboratory database of 19,298 amyloid specimens from myriad anatomic sites typed by mass spectrometry-based proteomics (LC-MS/MS) to investigate the frequency of ATTR amyloid in tendon/synovium, urinary bladder, and prostate. The amyloid type was ATTR in 104/138 (75.4%) tendon/synovium, 173/ 453 (38.0%) urinary bladder, and 27/81 (33.3%) prostate samples. Of 62 patients with available clinical data, 12 (19%) had bona fide ATTR cardiac amyloidosis prior to/concomitant with the non-cardiac site biopsy. Of the remaining 14 with followup, 8 developed bona fide and 2 probable cardiac amyloidosis; at last follow-up 4 had no evidence of cardiac amyloidosis. Fourteen of 16 patients (87.5%) for whom we typed both non-cardiac and cardiac sites had concordant amyloid types. There were 2 discordant cases (prostate = ASem1/heart = AL and urinary bladder = AL/heart = ATTR); only the latter is potentially clinically consequential. Conclusions In patients suspected of having cardiac amyloidosis based on cardiac scintigraphy, LC-MS/MS typing of Congophilic deposits in pre-existing biopsy specimens from non-cardiac sites may help establish the cardiac amyloid type, obviating the need for EMB. However, if the amyloid type identified in the non-cardiac site is not in keeping with other clinical features, then EMB for typing the cardiac amyloid might be indicated.

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Section: Introductionmentioning

confidence: 99%

Non‐cardiac biopsy sites with high frequency of transthyretin amyloidosis

et al. 2020

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“…The clinical importance of bladder amyloidosis is that it mimics bladder cancer. Although amyloidosis is a benign condition, it was associated with urothelial carcinoma in 48% of 21 cases reported 3 . Here, we present a case of localized bladder amyloidosis with a review of the literature.…”

Section: Introductionmentioning

confidence: 90%

“…Although amyloidosis is a benign condition, it was associated with urothelial carcinoma in 48% of 21 cases reported. 3 Here, we present a case of localized bladder amyloidosis with a review of the literature. Interestingly, this is the first case reported in which resection of this bladder lesion was complicated by postoperative extraperitoneal perforation of the bladder wall.…”

Section: Introductionmentioning

confidence: 99%

Primary bladder amyloidosis mimicking bladder cancer complicated by bladder rupture: A case report

Sibira

Albakar

Younes

et al. 2021

Clinical Case Reports

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Amyloidosis refers to a non-neoplastic heterogeneous group of disorders related to the extracellular deposition of insoluble fibrils in different organs. 1 Amyloidosis can be primary, secondary, and hereditary. Primary amyloidosis (AL) is usually related to plasma cell abnormalities. On the contrary, secondary amyloidosis (AA) occurs due to longstanding infections, inflammation, or neoplastic insults. Eventually, hereditary amyloidosis (ATTR) is related to autosomal-dominant inherited mutations in transthyretin protein gene. 1 Amyloidosis can be systemic, which is usually progressive and fatal or localized. Localized amyloidosis of the urinary bladder is rare, with the most extensive series reported 31 cases. 2 The clinical importance of bladder amyloidosis is that it mimics bladder cancer. Although amyloidosis is a benign condition, it was associated with urothelial carcinoma in 48% of 21 cases reported. 3 Here, we present a case of localized bladder amyloidosis with a review of the literature. Interestingly, this is the first case

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“…In a retrospective review, the rate of urothelial carcinoma in patients with known bladder amyloid was 48%, a third of which were high-grade at the time of diagnosis. 5 Histologically, amyloid deposits were seen adjacent to the malignant lesions, never seen within the tumor itself. Surveillance cystoscopy in patients with bladder amyloidosis is therefore recommended to identify local recurrence and possible urothelial carcinomas.…”

Section: Discussionmentioning

confidence: 98%

Gross hematuria: An unusual presenting symptom of systemic wild-type transthyretin amyloidosis

Vincent

Christensen

Weiner

2021

Urology Case Reports

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Amyloidosis of the urinary bladder is a rare cause of gross hematuria. In patients with systemic amyloidosis, identification is nearly always related to cardiac complaints; urologic presenting symptoms are extremely uncommon. We present a 77-year-old male patient with painless gross hematuria ultimately found to be secondary to systemic wild-type transthyretin amyloidosis. He underwent transurethral resection of the bladder lesion and was initiated on transthyretin stabilizing medication. In the 6 months since starting treatment, the patient has had no further episodes of gross hematuria, but will require cystoscopic surveillance for evidence of recurrence or concomittment urothelial carcinoma.

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Amyloidosis of the bladder and association with urothelial carcinoma: report of 29 cases

Cited by 11 publications

References 26 publications

Non‐cardiac biopsy sites with high frequency of transthyretin amyloidosis

Non‐cardiac biopsy sites with high frequency of transthyretin amyloidosis

Primary bladder amyloidosis mimicking bladder cancer complicated by bladder rupture: A case report

Gross hematuria: An unusual presenting symptom of systemic wild-type transthyretin amyloidosis

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