Biomarkers in immunoglobulin light chain amyloidosis

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KUFOVA Z. SEVCIKOVA T. GROWKOVA K. VOJTA P. FILIPOVA J. ADAM Zdeněk POUR Luděk PENKA Miroslav RYSAVA R. NĚMEC Pavel BROŽOVÁ Lucie VYCHYTILOVÁ Petra JURCZYSZYN A. GROSICKI S. BARCHNICKA A. HAJDUCH M. SIMICEK M. HAJEK R.

Rok publikování 2017
Druh Článek v odborném periodiku
Časopis / Zdroj Klinická onkologie
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Doi http://dx.doi.org/10.14735/amko20172S60
Obor Onkologie a hematologie
Klíčová slova amyloidosis; genome; microRNA; plasma cell; transcriptome; immunoglobulin
Popis Immunoglobulin light chain amyloidosis (AL amyloidosis - ALA) is a monoclonal gammopathy characterized by presence of aberrant plasma cells producing amyloidogenic immunoglobulin light chains. This leads to formation of amyloid fibrils in various organs and tissues, mainly in heart and kidney, and causes their dysfunction. As amyloid depositing in target organs is irreversible, there is a big effort to identify bio marker that could help to distinguish ALA from other monoclonal gammopathies in the early stages of disease, when amyloid deposits are not fatal yet. High throughput technologies bring new opportunities to modern cancer research as they enable to study disease within its complexity. Sophisticated methods such as next generation sequencing, gene expression profiling and circulating microRNA profiling are new approaches to study aberrant plasma cells from patients with light chain amyloidosis and related diseases. While generally known mutation in multiple myeloma patients (KRAS, NRAS, MYC, TP53) were not found in ALA, number of mutated genes is comparable. Transcriptome of ALA patients proves to be more similar to monoclonal gammopathy of undetermined significance patients, moreover level of circulating microRNA, that are known to correlate with heart damage, is increased in ALA patients, where heart damage in ALA typical symptom.

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