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MYD88 and CXCR4 Mutation Profiling in Lymphoplasmacytic Lymphoma/Waldenstrom’s Macroglobulinaemia

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Indian Journal of Hematology and Blood Transfusion Aims and scope Submit manuscript

Abstract

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.

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Authors and Affiliations

  1. Department of Laboratory Haematology and Molecular Genetics, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata, 700156, India

    Sushant Vinarkar, Neeraj Arora, Sourav Sarma Chowdhury, Kallol Saha, Biswajoy Pal & Deepak Kumar Mishra

  2. Department of Laboratory Haematology and Cytogenetics, Tata Medical Center, Kolkata, India

    Mayur Parihar

  3. Department of Clinical Haematology, Tata Medical Center, Kolkata, India

    Vivek S. Radhakrishnan, Saurabh Bhave, Mammen Chandy & Reena Nair

  4. Apollo Gleneagles Hospital, Kolkata, India

    Anupam Chakrapani & Shilpa Bhartia

Authors
  1. Sushant Vinarkar
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  2. Neeraj Arora
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  13. Deepak Kumar Mishra
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Corresponding author

Correspondence to Neeraj Arora.

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All authors declare that they have no conflict of interest.

Ethical Approval

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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Vinarkar, S., Arora, N., Chowdhury, S.S. et al. MYD88 and CXCR4 Mutation Profiling in Lymphoplasmacytic Lymphoma/Waldenstrom’s Macroglobulinaemia. Indian J Hematol Blood Transfus 35, 57–65 (2019). https://doi.org/10.1007/s12288-018-0978-1

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  • DOI: https://doi.org/10.1007/s12288-018-0978-1

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