Genetické změny u Waldenströmovy makroglobulinemie
| Title in English | Gene mutations connected to Waldenstöm macroglobulinemia |
|---|---|
| Authors | |
| Year of publication | 2016 |
| Type | Article in Periodical |
| Magazine / Source | Vnitřní lékařství |
| MU Faculty or unit | |
| 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. |