PBX1-directed stem cell transcriptional program drives tumor progression in myeloproliferative neoplasm

Stem Cell Reports. 2021 Nov 9;16(11):2607-2616. doi: 10.1016/j.stemcr.2021.09.016. Epub 2021 Oct 21.

Abstract

PBX1 regulates the balance between self-renewal and differentiation of hematopoietic stem cells and maintains proto-oncogenic transcriptional pathways in early progenitors. Its increased expression was found in myeloproliferative neoplasm (MPN) patients bearing the JAK2V617F mutation. To investigate if PBX1 contributes to MPN, and to explore its potential as therapeutic target, we generated the JP mouse strain, in which the human JAK2 mutation is induced in the absence of PBX1. Typical MPN features, such as thrombocythemia and granulocytosis, did not develop without PBX1, while erythrocytosis, initially displayed by JP mice, gradually resolved over time; splenic myeloid metaplasia and in vitro cytokine independent growth were absent upon PBX1 inactivation. The aberrant transcriptome in stem/progenitor cells from the MPN model was reverted by the absence of PBX1, demonstrating that PBX1 controls part of the molecular pathways deregulated by the JAK2V617F mutation. Modulation of the PBX1-driven transcriptional program might represent a novel therapeutic approach.

Keywords: CD61; Emb; HSPC; JAK2V617F; MPN; Pbx1; differentiation; erythrocytosis; hematopoietic stem cells; myeloproliferative neoplasm.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Disease Models, Animal
  • Disease Progression
  • Gene Expression Profiling / methods
  • Gene Expression Regulation, Neoplastic*
  • Hematopoietic Stem Cells / metabolism*
  • Humans
  • Mice
  • Mice, Knockout
  • Mice, Transgenic
  • Mutation
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / metabolism
  • Myeloproliferative Disorders / pathology
  • Neoplasms / genetics*
  • Neoplasms / metabolism
  • Neoplasms / pathology
  • Pre-B-Cell Leukemia Transcription Factor 1 / genetics*
  • Pre-B-Cell Leukemia Transcription Factor 1 / metabolism
  • RNA-Seq / methods
  • Signal Transduction / genetics

Substances

  • Pbx1 protein, mouse
  • Pre-B-Cell Leukemia Transcription Factor 1