title: [Gene mutations connected to Waldenstöm macroglobulinemia].
abstract: 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 MYD88(L265P) and CXCR4(WHIM) 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.
authors.forename: Kateřina
authors.initials: K
authors.lastname: Kutálková
authors.forename: Lenka
authors.initials: L
authors.lastname: Sedlaříková
authors.forename: Zdeněk
authors.initials: Z
authors.lastname: Adam
authors.forename: Sabina
authors.initials: S
authors.lastname: Ševčíková
mesh_terms: D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D006801:Humans; D007075:Immunoglobulin M / Q000276:immunology; D009154:Mutation; D053594:Myeloid Differentiation Factor 88 / Q000235:genetics*; D019718:Receptors, CXCR4 / Q000235:genetics*; D015398:Signal Transduction; D014314:Trisomy; D008258:Waldenstrom Macroglobulinemia / Q000235:genetics* / Q000276:immunology
chemical_list: C527276:CXCR4 protein, human; D007075:Immunoglobulin M; C507779:MYD88 protein, human; D053594:Myeloid Differentiation Factor 88; D019718:Receptors, CXCR4