Gene mutations connected to Waldenstöm macroglobulinemia


Authors: Kateřina Kutálková 1;  Lenka Sedlaříková 1,2;  Zdeněk Adam 3;  Sabina Ševčíková 1,2
Authors‘ workplace: Babákova myelomová skupina, Ústav patologické fyziologie LF MU Brno 1;  Oddělení klinické hematologie FN Brno 2;  Interní hematologická a onkologická klinika LF MU a FN Brno, pracoviště Bohunice 3
Published in: Vnitř Lék 2016; 62(1): 40-43
Category: Reviews

Overview

Waldenstöm macroglobulinemia (WM) is a rare lymphoproliferative disorder, currently classified as a monoclonal gammopathy, with incidence rate of 3 per million. The disease is characterized by presence of clonal B lymphocytes in the bone marrow and by presence of monoclonal immunoglobulin IgM in serum. It is mostly an indolent disorder, with median overall survival 6 years. Molecular pathogenesis of WM remains unclear, but deletion of 6q and 13q, trisomy of chromosomes 4 and 8 seem to be typical. Mutations of MYD88L265P and CXCR4WHIM are very common for WM and affect growth and survival of malignant cells. This work is aimed at the current knowledge of chromosomal aberrations and gene mutations connected to the pathophysiology of WM.

Key words:
chromosomal aberrations – somatic mutations – Waldenström macroglobulinemia


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Diabetology Endocrinology Internal medicine
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