Publication details

Genetické změny u Waldenströmovy makroglobulinemie

Title in English Gene mutations connected to Waldenstöm macroglobulinemia
Authors

KUTÁLKOVÁ Kateřina SEDLAŘÍKOVÁ Lenka ADAM Zdeněk ŠEVČÍKOVÁ Sabina

Year of publication 2016
Type Article in Periodical
Magazine / Source Vnitřní lékařství
MU Faculty or unit

Faculty of Medicine

Citation
Field Oncology and hematology
Keywords chromosomal aberrations; somatic mutations; Waldenström macroglobulinemia
Description 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.

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