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Updated: Jul 29, 2025

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
Published on: March 29, 2017
Clinical Implications of Genomic Profile in Waldenström Macroglobulinemia
David F Moreno1, Carlos Fernández de Larrea1
1Department of Hematology, Amyloidosis and Myeloma Unit, Hospital Clínic de Barcelona, Villarroel 170, 08036, Barcelona, Spain; Institut D'Investigacions Biomèdiques August Pi I Sunyer, University of Barcelona, Spain.
Abstract:
With the increasing availability of sequencing techniques and new polymerase chain reaction-based methods, data regarding the genomic profile of Waldenström macroglobulinemia (WM) are being continuously analyzed and reproduced. MYD88 and CXCR4 mutations are highly prevalent in all the stages of WM, including the early IgM monoclonal gammopathy of undetermined significance or a more advanced stage, such as smoldering WM. Thus, there is a need to define genotypes before starting either standard treatment regimens or clinical trials. Here, we review the genomic profile of WM and its clinical implications while focusing on recent advances.
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