Diagnostic Next-generation Sequencing Frequently Fails to Detect MYD88L265P in Waldenström Macroglobulinemia

Abstract excerpt

Mutations in MYD88 (MYD88MUT) are present in approximately 93%–97% of patients with Waldenström macroglobulinemia (WM), nearly all of which correspond to the c.978T>C transversion resulting in a p.Leu265Pro (L265P) substitution at the protein level.1,2 MYD88MUT helps support the diagnosis of WM and differentiate from other IgM-secreting B-cell malignancies, such as marginal zone lymphoma and IgM myeloma, where it...

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