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Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglobulinemia and related lymphoid neoplasms.
Blood. 2013 Mar 28; 121(13):2522-8.Blood

Abstract

A study has shown that MYD88 (L265P) is a recurring somatic mutation in Waldenström's macroglobulinemia (WM). We developed an allele-specific polymerase chain reaction (PCR) for this mutation, and analyzed bone marrow or peripheral blood samples from 58 patients with WM, 77 with IgM monoclonal gammopathy of undetermined significance (IgM-MGUS), 84 with splenic marginal zone lymphoma (SMZL), and 52 with B-cell chronic lymphoproliferative disorders (B-CLPD). MYD88 (L265P) was detected in 58/58 (100%) patients with WM, 36/77 (47%) with IgM-MGUS, 5/84 (6%) with SMZL, and 3/52 (4%) with B-CLPD. Compared to IgM-MGUS patients with wild-type MYD88, those carrying MYD88 (L265P) showed significantly higher levels of IgM (P < .0001) and presented Bence-Jones proteinuria more frequently at diagnosis (P = .002). During follow-up, 9 patients with IgM-MGUS progressed to WM or to marginal zone lymphoma. Using a case-control approach, the risk of evolution of patients carrying MYD88 (L265P) was significantly higher than that of patients with wild-type MYD88 (odds ratio 4.7, 95% confidence interval 0.8 to 48.7, P = .047). These findings indicate that the allele-specific PCR we developed is a useful diagnostic tool for patients with WM or IgM-MGUS. In this latter condition, MYD88 (L265P) is associated with greater disease burden and higher risk of disease progression, and the mutation may therefore also represent a useful prognostic marker.

Authors+Show Affiliations

Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy. m.varettoni@smatteo.pv.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23355535

Citation

Varettoni, Marzia, et al. "Prevalence and Clinical Significance of the MYD88 (L265P) Somatic Mutation in Waldenstrom's Macroglobulinemia and Related Lymphoid Neoplasms." Blood, vol. 121, no. 13, 2013, pp. 2522-8.
Varettoni M, Arcaini L, Zibellini S, et al. Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglobulinemia and related lymphoid neoplasms. Blood. 2013;121(13):2522-8.
Varettoni, M., Arcaini, L., Zibellini, S., Boveri, E., Rattotti, S., Riboni, R., Corso, A., Orlandi, E., Bonfichi, M., Gotti, M., Pascutto, C., Mangiacavalli, S., Croci, G., Fiaccadori, V., Morello, L., Guerrera, M. L., Paulli, M., & Cazzola, M. (2013). Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglobulinemia and related lymphoid neoplasms. Blood, 121(13), 2522-8. https://doi.org/10.1182/blood-2012-09-457101
Varettoni M, et al. Prevalence and Clinical Significance of the MYD88 (L265P) Somatic Mutation in Waldenstrom's Macroglobulinemia and Related Lymphoid Neoplasms. Blood. 2013 Mar 28;121(13):2522-8. PubMed PMID: 23355535.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prevalence and clinical significance of the MYD88 (L265P) somatic mutation in Waldenstrom's macroglobulinemia and related lymphoid neoplasms. AU - Varettoni,Marzia, AU - Arcaini,Luca, AU - Zibellini,Silvia, AU - Boveri,Emanuela, AU - Rattotti,Sara, AU - Riboni,Roberta, AU - Corso,Alessandro, AU - Orlandi,Ester, AU - Bonfichi,Maurizio, AU - Gotti,Manuel, AU - Pascutto,Cristiana, AU - Mangiacavalli,Silvia, AU - Croci,Giorgio, AU - Fiaccadori,Valeria, AU - Morello,Lucia, AU - Guerrera,Maria Luisa, AU - Paulli,Marco, AU - Cazzola,Mario, Y1 - 2013/01/25/ PY - 2013/1/29/entrez PY - 2013/1/29/pubmed PY - 2013/6/5/medline SP - 2522 EP - 8 JF - Blood JO - Blood VL - 121 IS - 13 N2 - A study has shown that MYD88 (L265P) is a recurring somatic mutation in Waldenström's macroglobulinemia (WM). We developed an allele-specific polymerase chain reaction (PCR) for this mutation, and analyzed bone marrow or peripheral blood samples from 58 patients with WM, 77 with IgM monoclonal gammopathy of undetermined significance (IgM-MGUS), 84 with splenic marginal zone lymphoma (SMZL), and 52 with B-cell chronic lymphoproliferative disorders (B-CLPD). MYD88 (L265P) was detected in 58/58 (100%) patients with WM, 36/77 (47%) with IgM-MGUS, 5/84 (6%) with SMZL, and 3/52 (4%) with B-CLPD. Compared to IgM-MGUS patients with wild-type MYD88, those carrying MYD88 (L265P) showed significantly higher levels of IgM (P < .0001) and presented Bence-Jones proteinuria more frequently at diagnosis (P = .002). During follow-up, 9 patients with IgM-MGUS progressed to WM or to marginal zone lymphoma. Using a case-control approach, the risk of evolution of patients carrying MYD88 (L265P) was significantly higher than that of patients with wild-type MYD88 (odds ratio 4.7, 95% confidence interval 0.8 to 48.7, P = .047). These findings indicate that the allele-specific PCR we developed is a useful diagnostic tool for patients with WM or IgM-MGUS. In this latter condition, MYD88 (L265P) is associated with greater disease burden and higher risk of disease progression, and the mutation may therefore also represent a useful prognostic marker. SN - 1528-0020 UR - https://www.unboundmedicine.com/medline/citation/23355535/Prevalence_and_clinical_significance_of_the_MYD88__L265P__somatic_mutation_in_Waldenstrom's_macroglobulinemia_and_related_lymphoid_neoplasms_ L2 - https://ashpublications.org/blood/article-lookup/doi/10.1182/blood-2012-09-457101 DB - PRIME DP - Unbound Medicine ER -