landmarkGenetic discovery

MYD88 L265P identified as hallmark somatic mutation in WM

Waldenström's Macroglobulinemia

Summary

Treon et al. (2012, NEJM) identified the MYD88 L265P somatic mutation in 91% of WM patients by whole-genome sequencing. This activating mutation drives NF-kB and JAK-STAT signaling via constitutive TLR pathway activation, representing the most disease-specific oncogene in any B-cell malignancy and enabling molecular diagnostics and targeted therapy development.

Related genes

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ID: waldenstroms-macroglobulinemia-update-6Type: genetic_discoveryImpact: landmark