A mutation in MYD88 (L265P) supports the survival of lymphoplasmacytic cells by activation of Bruton tyrosine kinase in Waldenström macroglobulinemia

Blood. 2013 Aug 15;122(7):1222-32. doi: 10.1182/blood-2012-12-475111. Epub 2013 Jul 8.

Abstract

Myeloid differentiation factor 88 (MYD88) L265P somatic mutation is highly prevalent in Waldenström macroglobulinemia (WM) and supports malignant growth through nuclear factor κB (NF-κB). The signaling cascade(s) by which MYD88 L265P promotes NF-κB activation in WM remain unclear. By lentiviral knockdown or use of a MYD88 inhibitor, decreased phosphorylation of the NF-κB gatekeeper IκBα and survival occurred in MYD88 L265P-expressing WM cells. Conversely, WM cells engineered to overexpress MYD88 L265P showed enhanced survival. Coimmunoprecipitation studies identified Bruton tyrosine kinase (BTK) complexed to MYD88 in L265P-expressing WM cells, with preferential binding of MYD88 to phosphorylated BTK (pBTK). Increased pBTK was also observed in WM cells transduced to overexpress L265P vs wild-type MYD88. Importantly, MYD88 binding to BTK was abrogated following treatment of MYD88 L265P-expressing cells with a BTK kinase inhibitor. Inhibition of BTK or interleukin-1 receptor-associated kinase 1 and 4 (IRAK-1 and -4) kinase activity induced apoptosis of WM cells, and their combination resulted in more robust inhibition of NF-κB signaling and synergistic WM cell killing. The results establish BTK as a downstream target of MYD88 L265P signaling, and provide a framework for the study of BTK inhibitors alone, and in combination with IRAK inhibitors for the treatment of WM.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agammaglobulinaemia Tyrosine Kinase
  • Apoptosis*
  • Blotting, Western
  • Case-Control Studies
  • Cell Proliferation*
  • Cells, Cultured
  • Flow Cytometry
  • Humans
  • Immunoprecipitation
  • Interleukin-1 Receptor-Associated Kinases / metabolism
  • Lentivirus / genetics
  • Luciferases / metabolism
  • Lymphocytes / metabolism
  • Lymphocytes / pathology*
  • Mutation / genetics*
  • Myeloid Differentiation Factor 88 / antagonists & inhibitors
  • Myeloid Differentiation Factor 88 / genetics
  • Myeloid Differentiation Factor 88 / metabolism*
  • NF-kappa B / genetics
  • NF-kappa B / metabolism
  • Phosphorylation
  • Protein-Tyrosine Kinases / metabolism*
  • RNA, Small Interfering / genetics
  • Signal Transduction
  • Waldenstrom Macroglobulinemia / genetics
  • Waldenstrom Macroglobulinemia / metabolism
  • Waldenstrom Macroglobulinemia / pathology*

Substances

  • MYD88 protein, human
  • Myeloid Differentiation Factor 88
  • NF-kappa B
  • RNA, Small Interfering
  • Luciferases
  • Protein-Tyrosine Kinases
  • Agammaglobulinaemia Tyrosine Kinase
  • BTK protein, human
  • IRAK1 protein, human
  • Interleukin-1 Receptor-Associated Kinases