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Case Reports in Hematology
Volume 2017 (2017), Article ID 5183646, 4 pages
Case Report

Utility of MYD88 in the Differential Diagnosis and Choice of Second-Line Therapy in a Case of Nonsecretory Lymphoplasmacytic Lymphoma versus Free Light Chain Waldenstrom’s Macroglobulinemia

1Geisinger Commonwealth School of Medicine, 521 Pine Street, Scranton, PA 18510, USA
2Division of Hematology and Oncology, Memorial Sloan-Kettering Cancer Center, New York, NY, USA
3Hematology & Oncology Associates of Northeastern Pennsylvania, 1100 Meade Street, Dunmore, PA 18512, USA

Correspondence should be addressed to C. Barsigian

Received 15 September 2016; Revised 20 December 2016; Accepted 9 January 2017; Published 12 February 2017

Academic Editor: Uma Dasgupta

Copyright © 2017 D. Kazmierski et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The MYD88 L265P somatic variant (MYD88) has a high prevalence in Waldenstrom’s Macroglobulinemia (WM), a form of lymphoplasmacytic lymphoma (LPL) associated with monoclonal IgM. Although the role of MYD88 in WM was initially reported in 2012, it was not until 2016 that MYD88 testing was included in the National Cancer Care Network (NCCN) Guidelines. We present a case illustrating the utility of MYD88 status in distinguishing atypical forms of WM from marginal zone lymphoma (MZL) and in selecting second-line therapy with ibrutinib. In 2012, a 64-year-old male presented with dyspnea on exertion, a hemoglobin of 5.6 g/dL, a platelet count of 86,000, and monoclonal IgM kappa on serum immunofixation but no detectable M-spike. Bone marrow biopsy revealed 95% monoclonal B-lymphocytes with lymphoplasmacytic differentiation favoring a diagnosis of LPL/WM over MZL, with a favorable response to chemotherapy. This diagnosis was called into question 3 years later following relapse, and MZL was favored based on the lack of MYD88 mutation. One year later, however, repeat bone marrow biopsy detected the MYD88 mutation and therapy with ibrutinib yielded a favorable response. The distinction between certain lymphomas can be problematic and in this case MYD88 was helpful in clarifying a diagnosis of atypical LPL/WM from MZL and in selecting effective second-line therapy.