MYD88 L265P in Waldenström macroglobulinemia, immunoglobulin M monoclonal gammopathy, and other B-cell lymphoproliferative disorders using conventional and quantitative allele-specific polymerase chain reaction.

@article{Xu2013MYD88LI,
  title={MYD88 L265P in Waldenstr{\"o}m macroglobulinemia, immunoglobulin M monoclonal gammopathy, and other B-cell lymphoproliferative disorders using conventional and quantitative allele-specific polymerase chain reaction.},
  author={Lian Xu and Z. Hunter and G. Yang and Y. Zhou and Yanglin Cao and Xia Liu and E. Morra and A. Trojani and A. Greco and L. Arcaini and M. Varettoni and Jennifer R. Brown and Y. Tai and K. Anderson and N. Munshi and C. Patterson and R. Manning and C. Tripsas and N. Lindeman and S. Treon},
  journal={Blood},
  year={2013},
  volume={121 11},
  pages={
          2051-8
        }
}
By whole-genome and/or Sanger sequencing, we recently identified a somatic mutation (MYD88 L265P) that stimulates nuclear factor κB activity and is present in >90% of Waldenström macroglobulinemia (WM) patients. MYD88 L265P was absent in 90% of immunoglobulin M (IgM) monoclonal gammopathy of undetermined significance (MGUS) patients. We therefore developed conventional and real-time allele-specific polymerase chain reaction (AS-PCR) assays for more sensitive detection and quantification of… Expand
MYD88 L265P is a marker highly characteristic of, but not restricted to, Waldenström’s macroglobulinemia
TLDR
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 and less IGHV3–23 gene selection; these small differences did not lead to different time to first therapy, response to treatment or progression-free or overall survival. Expand
Detection of MYD88 L265P in peripheral blood of patients with Waldenström’s Macroglobulinemia and IgM monoclonal gammopathy of undetermined significance
TLDR
The feasibility for detecting MYD88 L265P by PB examination is shown, and the potential for PB MYD 88 L 265P ΔCt use in the diagnosis and management of WM patients is potential. Expand
Detection of MYD88 L265P mutation by next-generation deep sequencing in peripheral blood mononuclear cells of Waldenström’s macroglobulinemia and IgM monoclonal gammopathy of undetermined significance
TLDR
The authors' non-invasive, simple NGS method has the potential to detect MYD88 L265P mutations in PBMCs of IgM MGUS and WM patients, which may especially utilized for monitoring minimal residual tumor burden after treatment. Expand
Clone-specific MYD88 L265P and CXCR4 mutation status can provide clinical utility in suspected Waldenström macroglobulinemia/lymphoplasmacytic lymphoma.
TLDR
A novel approach to increase the specificity of MYD88 L265P for WM/LPL diagnosis by combining flow cytometric cell sorting with molecular analysis and significantly increases CXCR4 detection sensitivity. Expand
Prevalence and prognosis implication of MYD88 L265P mutation in IgM monoclonal gammopathy of undetermined significance and smouldering Waldenström macroglobulinaemia
TLDR
The aim of the present study was to ascertain the prevalence of MYD88 L265P mutation in individuals with IgM monoclonal gammopathy of undetermined significance (MGUS), smouldering WM (SWM) and WM patients and its prognostic impact on progression from asymptomatic IgM gammopathies (IgM MGUS and SWM) to WM from a single institution. Expand
[Diagnostic approach of an IgM monoclonal gammopathy and clinical importance of gene MYD88 L265P mutation].
TLDR
A monoclonal IgM peak suggests a MW but other B lymphoproliferatives disorders should be excluded, even if the L265P mutation is frequent in the LLP/MW, it is not specific. Expand
Pattern of somatic mutations in patients with Waldenström macroglobulinemia or IgM monoclonal gammopathy of undetermined significance
TLDR
Waldenström macroglobulinemia patients with wild-type MYD88 had a distinct clinical phenotype characterized by less bone marrow infiltration and more frequent extramedullary involvement compared to patients with mutated MyD88, which indicated that CXCR4 mutations were present in the dominant clone in the majority of cases. Expand
Multiparameter flow cytometry for the identification of the Waldenström’s clone in IgM-MGUS and Waldenström’s Macroglobulinemia: new criteria for differential diagnosis and risk stratification
TLDR
A comprehensive MFC analysis on bone marrow samples from 244 newly diagnosed patients with an immunoglobulin M (IgM) monoclonal protein was performed, highlighting the potential value of MFC immunophenotyping for the characterization of the Waldenström’s clone, as well as for the differential diagnosis, risk of progression and survival in WM. Expand
Detection of MYD88 L265P and WHIM-like CXCR4 mutation in patients with IgM monoclonal gammopathy related disease
TLDR
The prevalence of the MYD88 L265P mutation and CXCR4 WHIM-like mutation in IgM RD may play a key role in the pathogenesis of IgM monoclonal gammopathies. Expand
Clonotypic Analysis Of Immunoglobulin Heavy Chain (IgH) Sequences In Patients With Waldenström’s Macroglobulinemia. Correlation With MYD88 L265P Somatic Mutation Status, Clinical Features and Outcome
TLDR
The identification of a minority of WM patients with unmutated IGHV gene segments, negative for the ΜΥD88 L265P mutation, supports the hypothesis that they represent a subgroup of WM not arising from post-germinal B cells with a different disease pathogenesis. Expand
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Prevalence and Clinical Significance of the MYD88 (L265P) Somatic Mutation in Patients with Waldenström Macroglobulinemia, IgM-Monoclonal Gammopathy of Undetermined Significance or Other Mature B-Cell Neoplasms.
TLDR
The findings of this study indicate that the allele-specific PCR developed is able to detect the MYD88 (L265P) mutation in all patients with WM and in nearly half the patients with IgM-MGUS, and therefore represents a useful diagnostic tool. Expand
Use of whole genome sequencing to identify highly recurrent somatic mutations in Waldenström’s macroglobulinemia.
TLDR
The most common somatic variants identified and validated by Sanger sequencing included MYD88 L265P, an activating mutation for IRAK/TRAF6/NFKB and MAPK signaling, which was observed in 27/30 WM patients and the N-terminal domain of CXCR4, which included mutations associated with WHIM syndrome. Expand
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TLDR
A whole exome-sequencing study of Waldenstrom macroglobulinemia confirmed a high frequency of MYD88 L265P mutation in WM, which may contribute to a better understanding of the physiopathogeny of WM. Expand
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TLDR
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TLDR
MYD88 L265P is a commonly recurring mutation in patients with Waldenström's macroglobulinemia that can be useful in differentiating WaldenStröm’s macrogalobulinesia and non-IgM LPL from B-cell disorders that have some of the same features. Expand
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TLDR
The results demonstrate that the history of antigen exposure of the four entities studied was different and MYD88 L265P was specifically associated with WM/LPLs, which may thus be functionally associated with constitutive nuclear factor-κB activation. Expand
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TLDR
MGUS and IWM identify disease entities with different propensities for symptomatic neoplastic evolution, and a practical scoring system is proposed that, identifying different risks of malignant evolution, may allow an individualized clinical approach. Expand
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TLDR
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