Comparative genomics reveals multistep pathogenesis of E2A-PBX1 acute lymphoblastic leukemia

J Clin Invest. 2015 Sep;125(9):3667-80. doi: 10.1172/JCI81158. Epub 2015 Aug 24.

Abstract

Acute lymphoblastic leukemia (ALL) is the most common childhood cancer; however, its genetic diversity limits investigation into the molecular pathogenesis of disease and development of therapeutic strategies. Here, we engineered mice that conditionally express the E2A-PBX1 fusion oncogene, which results from chromosomal translocation t(1;19) and is present in 5% to 7% of pediatric ALL cases. The incidence of leukemia in these mice varied from 5% to 50%, dependent on the Cre-driving promoter (Cd19, Mb1, or Mx1) used to induce E2A-PBX1 expression. Two distinct but highly similar subtypes of B cell precursor ALLs that differed by their pre-B cell receptor (pre-BCR) status were induced and displayed maturation arrest at the pro-B/large pre-B II stages of differentiation, similar to human E2A-PBX1 ALL. Somatic activation of E2A-PBX1 in B cell progenitors enhanced self-renewal and led to acquisition of multiple secondary genomic aberrations, including prominent spontaneous loss of Pax5. In preleukemic mice, conditional Pax5 deletion cooperated with E2A-PBX1 to expand progenitor B cell subpopulations, increasing penetrance and shortening leukemia latency. Recurrent secondary activating mutations were detected in key signaling pathways, most notably JAK/STAT, that leukemia cells require for proliferation. These data support conditional E2A-PBX1 mice as a model of human ALL and suggest targeting pre-BCR signaling and JAK kinases as potential therapeutic strategies.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • B-Lymphocytes / metabolism*
  • B-Lymphocytes / pathology
  • Cell Differentiation*
  • Cell Line, Tumor
  • Cell Proliferation*
  • Gene Expression Regulation, Leukemic*
  • Homeodomain Proteins / biosynthesis*
  • Homeodomain Proteins / genetics
  • Humans
  • Janus Kinases / genetics
  • Janus Kinases / metabolism
  • Mice
  • Mice, Transgenic
  • Mutation
  • Oncogene Proteins, Fusion / biosynthesis*
  • Oncogene Proteins, Fusion / genetics
  • PAX5 Transcription Factor / genetics
  • PAX5 Transcription Factor / metabolism
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / metabolism*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology
  • STAT Transcription Factors / genetics
  • STAT Transcription Factors / metabolism

Substances

  • Homeodomain Proteins
  • Oncogene Proteins, Fusion
  • PAX5 Transcription Factor
  • PAX5 protein, human
  • Pax5 protein, mouse
  • STAT Transcription Factors
  • E2A-Pbx1 fusion protein
  • Janus Kinases