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The following is a summary of “Gain or amplification of 1q21 in systemic light chain amyloidosis is associated with advanced Mayo stage, plasma cell disease and worse overall survival,” published in the March 2025 issue of Annals of Hematology by Oubari et al. 

Researchers conducted a retrospective study on amyloidosis (AL), a protein misfolding disorder caused by immunoglobulin light-chain fibril deposition from clonal plasma cells.  

They analyzed the impact of iFISH aberrations on clinical characteristics and outcomes in 175 patients with AL presented between 2015 and 2024. 

The results showed t (11;14) (57%), deletion 13q14 (33%), +1q21 (21%), hyperdiploidy (21%), and deletion 16q23 (17%) as the most common aberrations. dFLC levels were higher in +1q21 (407 vs. 213 mg/l, P=0.04) and deletion 16q23 (476 vs. 204 mg/l, p=0.006). Only +1q21 was linked to elevated NTproBNP (9945 vs. 3538 pg/ml, P=0.002) and hsTnT (110 vs. 53 ng/l, P=0.002), increasing Mayo stage IIIb cases (53% vs. 26%, P=0.01). Patients with +1q21 had more advanced plasma cell disease (P=0.0004). 

Investigators identified +1q21 as the key aberration linked to advanced cardiac and plasma cell disease. They observed worse overall survival (OS) in +1q21 patients treated with daratumumab (7.2 months vs. not reached, P=0.006) and suggested exploring CAR-T and bispecific antibodies. 

Source: link.springer.com/article/10.1007/s00277-025-06256-7