Author Listing - Lead/ Submitting Author (we will be communicating with this individual): Name, Institution, City and State where the work was done. Co-authors will be added in a separate section.
Buba Marong, MD
Scripps Clinic
La Jolla, California

Main Body of the Abstract
Background:The valine-to-isoleucine substitution at position 122 (V122I) is a genetic mutation in the transthyretin (TTR) gene found in 3-4% of individuals of West African descent which can lead to hereditary transthyretin amyloidosis (hATTR).
Case:A 68-year-old African American male with stage D heart failure secondary to hATTR cardiomyopathy (V122I) underwent orthotopic heart transplantation. One-year post-transplant the patient experienced progressive symptoms of polyneuropathy and hematuria. Cystoscopy showed friable bladder tissue and biopsy confirmed high grade papillary urothelial carcinoma (Figure 1A). Congo red staining revealed ATTR amyloid deposits (Figure 1B and 1C). Given plan for ileal conduit urinary diversion, he underwent colonoscopy with gastric and duodenal biopsies showing ATTR amyloid.
Decision-making: The patient was initiated on stabilizer therapy with Tafamidis. He successfully underwent radical cystoprostatectomy with ureteral diversion. Given the presence of hereditary ATTR polyneuropathy with diffuse extracardiac involvement (GI, bladder, nerves), he was approved for silencer therapy with patisiran. He continued to undergo routine transplant surveillance with no evidence of amyloid deposits on endomyocardial biopsies.
Conclusion: It is important to recognize that ATTR amyloidosis is a multi-system disease. Although rare, ATTR amyloid can deposit in the bladder and mimic urothelial carcinoma on gross examination and presentation. This case highlights the importance of suspecting amyloidosis involvement of any organ in the appropriate clinical context. In this case, our team requested Congo Red staining of the bladder specimen given the known hATTR history. This has important treatment implications, although the exact role of stabilizer therapy vs. gene silencers in bladder involvement is unclear.

**Author Listing - Lead/ Submitting Author (we will be communicating with this individual): Name, Institution, City and State where the work was done. Co-authors will be added in a separate section.**
Buba Marong, MD
Scripps Clinic
La Jolla, California

**Main Body of the Abstract**
**Background:**The valine-to-isoleucine substitution at position 122 (V122I) is a genetic mutation in the transthyretin (TTR) gene found in 3-4% of individuals of West African descent which can lead to hereditary transthyretin amyloidosis (hATTR).
**Case:**A 68-year-old African American male with stage D heart failure secondary to hATTR cardiomyopathy (V122I) underwent orthotopic heart transplantation. One-year post-transplant the patient experienced progressive symptoms of polyneuropathy and hematuria. Cystoscopy showed friable bladder tissue and biopsy confirmed high grade papillary urothelial carcinoma (Figure 1A). Congo red staining revealed ATTR amyloid deposits (Figure 1B and 1C). Given plan for ileal conduit urinary diversion, he underwent colonoscopy with gastric and duodenal biopsies showing ATTR amyloid.
**Decision-making**: The patient was initiated on stabilizer therapy with Tafamidis. He successfully underwent radical cystoprostatectomy with ureteral diversion. Given the presence of hereditary ATTR polyneuropathy with diffuse extracardiac involvement (GI, bladder, nerves), he was approved for silencer therapy with patisiran. He continued to undergo routine transplant surveillance with no evidence of amyloid deposits on endomyocardial biopsies.
**Conclusion:** It is important to recognize that ATTR amyloidosis is a multi-system disease. Although rare, ATTR amyloid can deposit in the bladder and mimic urothelial carcinoma on gross examination and presentation. This case highlights the importance of suspecting amyloidosis involvement of any organ in the appropriate clinical context. In this case, our team requested Congo Red staining of the bladder specimen given the known hATTR history. This has important treatment implications, although the exact role of stabilizer therapy vs. gene silencers in bladder involvement is unclear.

It’s not just the heart: Hereditary transthyretin amyloid hidden in bladder cancer PC12 (#123)

We invite you to attend the XIX International Symposium on Amyloidosis to be held in Rochester, MN.

This symposium is organized as a hybrid meeting (with the focus on in-person) held from Sunday, May 26 through Thursday, May 30, 2024.

Together with the ISA Board and members of Mayo Clinic, a very attractive scientific hybrid program is being planned. The program will cover a variety of types of systemic amyloidosis: ATTR (hereditary and wild-type), AL (light-chain), AA and less frequent forms. There will be key lectures, specific symposia including those company sponsored, oral presentations and poster sessions of accepted abstracts.

COURSE DESCRIPTION
This program will provide a comprehensive review of state-of-the-art education in systemic amyloidosis: basic science, pathophysiology, diagnosis, current and emerging treatments. Scientific presentations will include competitive oral and poster abstracts. The rapid evolution of scientific discovery and expanding treatment options has created tremendous interest in the field and this meeting will fill and important gap in educating scientists and clinicians.