MYD88 L265P is a marker highly characteristic of, but not restricted to, Waldenström’s macroglobulinemia
Top Cited Papers
- 28 February 2013
- journal article
- Published by Springer Science and Business Media LLC in Leukemia
- Vol. 27 (8), 1722-1728
- https://doi.org/10.1038/leu.2013.62
Abstract
We evaluated the MYD88 L265P mutation in Waldenström's macroglobulinemia (WM) and B-cell lymphoproliferative disorders by specific polymerase chain reaction (PCR) (sensitivity ∼10(-3)). No mutation was seen in normal donors, while it was present in 101/117 (86%) WM patients, 27/31 (87%) IgM monoclonal gammapathies of uncertain significance (MGUS), 3/14 (21%) splenic marginal zone lymphomas and 9/48 (19%) non-germinal center (GC) diffuse large B-cell lymphomas (DLBCLs). The mutation was absent in all 28 GC-DLBCLs, 13 DLBCLs not subclassified, 35 hairy cell leukemias, 39 chronic lymphocytic leukemias (16 with M-component), 25 IgA or IgG-MGUS, 24 multiple myeloma (3 with an IgM isotype), 6 amyloidosis, 9 lymphoplasmacytic lymphomas and 1 IgM-related neuropathy. Among WM and IgM-MGUS, MYD88 L265P mutation was associated with some differences in clinical and biological characteristics, although usually minor; wild-type MYD88 cases had smaller M-component (1.77 vs 2.72 g/dl, P=0.022), more lymphocytosis (24 vs 5%, P=0.006), higher lactate dehydrogenase level (371 vs 265 UI/L, P=0.002), atypical immunophenotype (CD23-CD27+ +FMC7+ +), less Immunoglobulin Heavy Chain Variable gene (IGHV) somatic hypermutation (57 vs 97%, P=0.012) and less IGHV3-23 gene selection (9 vs 27%, P=0.014). These small differences did not lead to different time to first therapy, response to treatment or progression-free or overall survival.Keywords
This publication has 42 references indexed in Scilit:
- Recurrent Mutations of MYD88 and TBL1XR1 in Primary Central Nervous System LymphomasClinical Cancer Research, 2012
- Molecular pathogenesis of Waldenstrom's macroglobulinemiaHaematologica, 2012
- EuroFlow antibody panels for standardized n-dimensional flow cytometric immunophenotyping of normal, reactive and malignant leukocytesLeukemia, 2012
- Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencingProceedings of the National Academy of Sciences of the United States of America, 2012
- Analysis of the coding genome of diffuse large B-cell lymphomaNature Genetics, 2011
- Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemiaNature, 2011
- The 2008 WHO classification of lymphoid neoplasms and beyond: evolving concepts and practical applicationsBlood, 2011
- Multiparameter flow cytometry quantification of bone marrow plasma cells at diagnosis provides more prognostic information than morphological assessment in myeloma patientsHaematologica, 2009
- How I treat Waldenström macroglobulinemiaBlood, 2009
- Clinicopathological definition of Waldenstrom's macroglobulinemia: Consensus Panel Recommendations from the Second International Workshop on Waldenstrom's MacroglobulinemiaSeminars in Oncology, 2003