Clinical Validation of a CXCR4 Mutation Screening Assay for Waldenstrom Macroglobulinemia

Mutations in CXCR4 have been identified in ∼29% of Waldenstrom Macroglobulinemia patients having the MYD88L265P mutation. CXCR4 mutations interfere with treatment response to ibrutinib. We designed and validated Sanger sequencing and pyrosequencing assays to detect mutations in CXCR4 in a CLIA-approved clinical laboratory. We identified CXCR4 mutations in 8/33 low grade B-cell lymphomas examined.

Source: Clinical Lymphoma, Myeloma and Leukemia - May 4, 2016 Category: Hematology Authors: Leomar Y. Ballester, Sanam Loghavi, Rashmi Kanagal-Shamanna, Bedia A. Barkoh, Pei Lin, L. Jeffrey Medeiros, Rajyalakshmi Luthra, Keyur P. Patel Tags: Original Study Source Type: research