Bone marrow-specific loss of ABI1 induces myeloproliferative neoplasm with features resembling human myelofibrosis

Blood. 2018 Nov 8;132(19):2053-2066. doi: 10.1182/blood-2018-05-848408. Epub 2018 Sep 13.

Abstract

Although the pathogenesis of primary myelofibrosis (PMF) and other myeloproliferative neoplasms (MPNs) is linked to constitutive activation of the JAK-STAT pathway, JAK inhibitors have neither curative nor MPN-stem cell-eradicating potential, indicating that other targetable mechanisms are contributing to the pathophysiology of MPNs. We previously demonstrated that Abelson interactor 1 (Abi-1), a negative regulator of Abelson kinase 1, functions as a tumor suppressor. Here we present data showing that bone marrow-specific deletion of Abi1 in a novel mouse model leads to development of an MPN-like phenotype resembling human PMF. Abi1 loss resulted in a significant increase in the activity of the Src family kinases (SFKs), STAT3, and NF-κB signaling. We also observed impairment of hematopoietic stem cell self-renewal and fitness, as evidenced in noncompetitive and competitive bone marrow transplant experiments. CD34+ hematopoietic progenitors and granulocytes from patients with PMF showed decreased levels of ABI1 transcript as well as increased activity of SFKs, STAT3, and NF-κB. In aggregate, our data link the loss of Abi-1 function to hyperactive SFKs/STAT3/NF-κB signaling and suggest that this signaling axis may represent a regulatory module involved in the molecular pathophysiology of PMF.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Animals
  • Bone Marrow / metabolism
  • Bone Marrow / pathology*
  • Cell Self Renewal
  • Cells, Cultured
  • Cytoskeletal Proteins / genetics*
  • Down-Regulation
  • Female
  • Gene Deletion*
  • Humans
  • Mice
  • Mice, Inbred C57BL
  • Mice, Transgenic
  • NF-kappa B / metabolism
  • Primary Myelofibrosis / genetics*
  • Primary Myelofibrosis / metabolism
  • Primary Myelofibrosis / pathology*
  • STAT3 Transcription Factor / metabolism
  • Signal Transduction
  • src-Family Kinases / metabolism

Substances

  • ABI1 protein, human
  • Abi1 protein, mouse
  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • NF-kappa B
  • STAT3 Transcription Factor
  • src-Family Kinases