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

• DOI: 10.1007/s12288-018-0978-1
• Publication Date: 2018-07-02T16:23:34Z
• Authors: Sushant Vinarkar; Neeraj Arora; Sourav Sarma Chow...; Kallol Saha; Biswajoy Pal; Mayur Parihar; Vivek S. Radhakri...; Anupam Chakrapani; Shilpa Bhartia; Saurabh Bhave; Mammen Chandy; Reena Nair; Deepak Kumar Mishra
• Keywords: Sanger sequencing; Lymphoplasmacytic Lymphoma; Hematology; Mutation Testing

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.