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

Sushant Vinarkar; Neeraj Arora; Sourav Sarma Chowdhury; Kallol Saha; Biswajoy Pal; Mayur Parihar; Vivek S Radhakrishnan; Anupam Chakrapani; Shilpa Bhartia; Saurabh Bhave; Mammen Chandy; Reena Nair; Deepak Kumar Mishra

doi:10.1007/s12288-018-0978-1

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

Indian J Hematol Blood Transfus. 2019 Jan;35(1):57-65. doi: 10.1007/s12288-018-0978-1. Epub 2018 Jul 2.

Affiliations

¹ 1Department of Laboratory Haematology and Molecular Genetics, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata, 700156 India.
² 2Department of Laboratory Haematology and Cytogenetics, Tata Medical Center, Kolkata, India.
³ 3Department of Clinical Haematology, Tata Medical Center, Kolkata, India.
⁴ 4Apollo Gleneagles Hospital, Kolkata, India.

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.

Keywords: CXCR4; LPL/WM; Lymphoplasmacytic lymphoma; MYD88; Waldenstrom’s macroglobulinaemia.