Aberrant splicing of the tumor suppressor CYLD promotes the development of chronic lymphocytic leukemia via sustained NF-κB signaling

Leukemia. 2018 Jan;32(1):72-82. doi: 10.1038/leu.2017.168. Epub 2017 Jun 1.

Abstract

The pathogenesis of chronic lymphocytic leukemia (CLL) has been linked to constitutive NF-κB activation but the underlying mechanisms are poorly understood. Here we show that alternative splicing of the negative regulator of NF-κB and tumor suppressor gene CYLD regulates the pool of CD5+ B cells through sustained canonical NF-κB signaling. Reinforced canonical NF-κB activity leads to the development of B1 cell-associated tumor formation in aging mice by promoting survival and proliferation of CD5+ B cells, highly reminiscent of human B-CLL. We show that a substantial number of CLL patient samples express sCYLD, strongly implicating a role for it in human B-CLL. We propose that our new CLL-like mouse model represents an appropriate tool for studying ubiquitination-driven canonical NF-κB activation in CLL. Thus, inhibition of alternative splicing of this negative regulator is essential for preventing NF-κB-driven clonal CD5+ B-cell expansion and ultimately CLL-like disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • B-Lymphocytes / metabolism
  • CD5 Antigens / genetics
  • Cell Proliferation / genetics
  • Cell Survival / genetics
  • Deubiquitinating Enzyme CYLD / genetics*
  • Genes, Tumor Suppressor / physiology*
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Mice
  • NF-kappa B / genetics*
  • RNA Splicing / genetics*
  • Signal Transduction / genetics*
  • Ubiquitination / genetics

Substances

  • CD5 Antigens
  • NF-kappa B
  • CYLD protein, human
  • Deubiquitinating Enzyme CYLD