Cooperative Enhancer Activation by TLX1 and STAT5 Drives Development of NUP214-ABL1/TLX1-Positive T Cell Acute Lymphoblastic Leukemia

Cancer Cell. 2018 Aug 13;34(2):271-285.e7. doi: 10.1016/j.ccell.2018.07.007.

Abstract

The NUP214-ABL1 fusion is a constitutively activated tyrosine kinase that is significantly associated with overexpression of the TLX1 and TLX3 transcription factors in T cell acute lymphoblastic leukemia (T-ALL). Here we show that NUP214-ABL1 cooperates with TLX1 in driving T-ALL development using a transgenic mouse model and human T-ALL cells. Using integrated ChIP-sequencing, ATAC-sequencing, and RNA-sequencing data, we demonstrate that TLX1 and STAT5, the downstream effector of NUP214-ABL1, co-bind poised enhancer regions, and cooperatively activate the expression of key proto-oncogenes such as MYC and BCL2. Inhibition of STAT5, downregulation of TLX1 or MYC, or interference with enhancer function through BET-inhibitor treatment leads to reduction of target gene expression and induction of leukemia cell death.

Keywords: cancer; cooperation; leukemia; mouse model; oncogenes; signaling; transcriptional regulation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Enhancer Elements, Genetic*
  • Gene Fusion
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / physiology*
  • Humans
  • Mice
  • Nuclear Pore Complex Proteins / genetics*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / pathology
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / physiology*
  • Proto-Oncogene Proteins c-abl / genetics*
  • Proto-Oncogene Proteins c-myc / physiology
  • STAT5 Transcription Factor / genetics
  • STAT5 Transcription Factor / physiology*

Substances

  • Homeodomain Proteins
  • NUP214 protein, human
  • Nuclear Pore Complex Proteins
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-myc
  • STAT5 Transcription Factor
  • TLX1 protein, human
  • ABL1 protein, human
  • Proto-Oncogene Proteins c-abl