MYD88 and CXCR4 Mutation Profiling in Lymphoplasmacytic Lymphoma/Waldenstrom’s Macroglobulinaemia
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Recurrent mutations affecting MYD88 and CXCR4 gene nowadays form the basis for the diagnosis, risk stratification and use of inhibitors targeting these signalling pathways in LPL/WM which are rare B cell neoplasms. MYD88 L265P mutation analysis was performed on 33 cases of LPL/WM by AS-PCR (positivity-84.8%, n = 28/33) and by Sanger sequencing (positivity-39.3%, n = 13/33). We had only two cases with CXCR4 non-sense (NS) mutation (p.S338*) using Sanger sequencing. MYD88 (L265P) mutation detection by AS-PCR can form reliable biomarker for the diagnosis of LPL/WM in molecular labs. Although the cohort is small, still the CXCR4 mutation frequency in our study is low as compared to the published literature.
KeywordsMYD88 CXCR4 LPL/WM Lymphoplasmacytic lymphoma Waldenstrom’s macroglobulinaemia
Compliance with Ethical Standards
Conflict of interest
All authors declare that they have no conflict of interest.
This study was approved by the Ethics Committee and Institutional Review Board (EC/TMC/83/16) of the Tata Medical Center, Kolkata, India.
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