Journal
INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION
Volume 35, Issue 1, Pages 57-65Publisher
SPRINGER INDIA
DOI: 10.1007/s12288-018-0978-1
Keywords
MYD88; CXCR4; LPL; WM; 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.
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