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Test Code: NMYD88
Description: L265P mutation: myeloid differentiation primary response gene 88 (HUGO: MYD88) is a signal transducer in the IL1 and Toll-like receptor signaling pathways. Autosomal recessive defects in MYD88 lead to increased risk of pyogenic infection. The MYD88 L265P activating mutation is found in >90% of patients with Waldenstrom’s macroglobulinemia (WM). In patients with IgM monoclonal gammopathy of uncertain significance, MYD88 L265P is a marker for risk of disease progression to WM. MYD88 L265P has also been observed in patients with splenic marginal zone lymphomas and chronic B cell lymphoproliferative disorders.


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