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Indian Journal of Hematology and Blood Transfusion

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01-01-2019 | Original Article

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

Authors: 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

Published in: Indian Journal of Hematology and Blood Transfusion | Issue 1/2019

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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Title: MYD88 and CXCR4 Mutation Profiling in Lymphoplasmacytic Lymphoma/Waldenstrom’s Macroglobulinaemia
Authors: 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
Publication date: 01-01-2019
Publisher: Springer India
Published in: Indian Journal of Hematology and Blood Transfusion / Issue 1/2019
Print ISSN: 0971-4502
Electronic ISSN: 0974-0449
DOI: https://doi.org/10.1007/s12288-018-0978-1

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