First Reported Case of Dual Hereditary Gelsolin and Transthyretin Wild-Type Cardiac Amyloidosis in a Man in his late 40s.

Amyloidosis is a group of disorders characterized by abnormal deposition of amyloid proteins in various tissues and organs, leading to progressive organ dysfunction. With over 40 precursor proteins linked to amyloid formation, identification of the amyloid type is critical to guide treatment. A man in his late 40s presenting with heart failure was diagnosed with cardiac amyloidosis based on an endomyocardial biopsy.

Gallbladder amyloidosis is often unexpected and may have systemic implications.

Objective: The aim of this study was to evaluate a large cohort of gallbladder amyloid cases to determine clinical and morphologic features.

Methods: Cholecystectomy specimens (N = 118) typed using proteomics-based techniques between 2008 and 2023 were identified. Clinical and morphologic features were reviewed.

Wild-Type Transthyretin Amyloidosis in the Kidneys.

Wild-type transthyretin (ATTRwt) amyloidosis typically presents with restrictive cardiomyopathy. Kidney involvement is exceedingly rare. We report to our knowledge the first antemortem diagnosis of ATTRwt amyloidosis with kidney vasculature deposition in a patient presenting with progressive kidney failure.

Proteomic shifts post plasma cell therapy in AL amyloid plaques and potential implications for light chain directed anti-fibril monoclonal antibodies.

Not available.

Treatment approaches and clinical outcomes in primary colorectal MALT lymphoma: a single institution retrospective study of 66 patients.

Not available.

The Amyloidosis Intersection: Dual Amyloid Types in a Single Host.

Background: Advances in fibril typing by mass spectrometry have improved the accuracy of amyloidosis diagnosis. Dual amyloidogenic proteins have been reported in deposits in sole and multiple different organs.

Methods: Five patients with dual amyloidoses were diagnosed between 1995 and 2022 by Congo red staining and fibril typing using the best available methods at the time of evaluation.

An unusual phenotype of hereditary AApoAI amyloidosis caused by a novel Asp20Tyr substitution is linked to pH-dependent aggregation of apolipoprotein A-I.

Apolipoprotein A-I (apoA-I) plays beneficial roles as the major structural and functional protein on plasma high-density lipoproteins (HDL). However, APOA1 gene mutations can cause protein misfolding and pathologic amyloid deposition in various organs in human hereditary AApoAI amyloidosis, a potentially lethal systemic disease. We report esophageal and duodenal AApoAI amyloidosis in a 56-year-old patient with Barrett's esophagus, a condition involving chronic acid reflux.

A rare case of primary testicular follicular lymphoma in a pediatric patient.

Testicular follicular lymphoma (TFL) is an exceedingly rare lymphoma that typically occurs in young male patients and is now recognized as a distinct diagnostic entity in the International Consensus Classification. TFL shows some clinicopathologic and genetic overlap with pediatric-type follicular lymphoma (PTFL). We report a case of TFL occurring in an otherwise healthy 4-year-old boy who presented with painless scrotal swelling.

Whole tissue proteomic analyses of cardiac ATTR and AL unveil mechanisms of tissue damage.

Background: Cardiac AL and ATTR are potentially fatal cardiomyopathies. Current therapies do not address mechanisms of tissue dysfunction because these remain unknown. Our prior work focused on the amyloid plaque proteome, which may not capture tissue-wide proteomic alterations.

CODOX-M/IVAC-R DA-EPOCH-R in double-hit/triple-hit lymphoma patients aged 60 years or under.

Intensified chemoimmunotherapy regimens are often used in young patients with double-hit and triple-hit lymphoma (DHL/ THL) despite no survival benefit compared to R-CHOP. Favorable retrospective reports on the application of CODOX-M/IVAC-R are subject to selection bias as only young fit patients can tolerate this treatment. We conducted a retrospective analysis to investigate outcome differences between CODOX-M/IVAC-R and DA-EPOCH-R in DHL/THL patients aged 60 years or younger.

Amyloid nomenclature 2024: update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee.

The ISA Nomenclature Committee met at the XIX International Symposium of Amyloidosis in Rochester, MN, 27 May 2024. The in-person event was followed by many electronic discussions, resulting in the current updated recommendations. The general nomenclature principles are unchanged.

A reliable clinical test for detection of membranous nephropathy antigens using laser microdissection and mass spectrometry.

Membranous nephropathy (MN) results from accumulation of antigen-antibody immune complexes along the subepithelial region of the glomerular basement membranes. Over the last years, 13 target antigens have been discovered and include PLA2R, THSD7A, EXT1 and EXT2, NELL1, SEMA3B, NCAM1, CNTN1, HTRA1, FAT1, PCDH7, NTNG1, PCSK6 and NDNF, accounting for 80-90% of MN antigens. MN associated with many of these antigens have distinctive clinicopathologic findings.

Cytogenetic and pathologic characterization of MYC-rearranged B-cell lymphomas in pediatric and young adult patients.

MYC-rearranged B-cell lymphoma (BCL) in the pediatric/young adult (YA) age group differs substantially in disease composition from adult cohorts. However, data regarding the partner genes, concurrent rearrangements, and ultimate diagnoses in these patients is scarce compared to that in adult cohorts. We aimed to characterize the spectrum of MYC-rearranged (MYC-R) mature, aggressive BCL in the pediatric/YA population.