In vivo leukemogenic potential of an interleukin 7 receptor α chain mutant in hematopoietic stem and progenitor cells

Blood. 2013 Dec 19;122(26):4259-63. doi: 10.1182/blood-2012-08-451278. Epub 2013 Oct 30.

Abstract

Somatic gain-of-function mutations in interleukin 7 receptor α chain (IL7Rα) have been described in pediatric T and B acute lymphoblastic leukemias (T/B-ALLs). Most of these mutations are in-frame insertions in the extracellular juxtamembrane-transmembrane region. By using a similar mutant, a heterozygous in-frame transmembrane insertional mutation (INS), we validated leukemogenic potential in murine hematopoietic stem/progenitor cells, using a syngeneic transplantation model. We found that ectopic expression of INS alone in hematopoietic stem/progenitor cells caused myeloproliferative disorders, whereas expression of INS in combination with a Notch1 mutant led to the development of much more aggressive T-ALL than with wild-type IL7Rα. Furthermore, forced expression of INS in common lymphoid progenitors led to the development of mature B-cell ALL/lymphoma. These results demonstrated that INS has significant in vivo leukemogenic activity and that the lineage of the resulting leukemia depends on the developmental stage in which INS occurs, and/or concurrent mutations.

MeSH terms

  • Animals
  • Female
  • Fetus / physiology
  • Gene Expression Regulation, Neoplastic*
  • Hematopoietic Stem Cells / physiology*
  • Leukemia, B-Cell / genetics*
  • Leukemia, B-Cell / pathology
  • Leukemia, T-Cell / genetics*
  • Leukemia, T-Cell / pathology
  • Mice
  • Mice, Inbred BALB C
  • Mutagenesis, Insertional
  • Myeloproliferative Disorders / genetics
  • Myeloproliferative Disorders / pathology
  • Pregnancy
  • Receptor, Notch1 / genetics
  • Receptors, Interleukin-7 / genetics*
  • Receptors, Interleukin-7 / metabolism
  • Stem Cells / physiology

Substances

  • Notch1 protein, mouse
  • Receptor, Notch1
  • Receptors, Interleukin-7
  • interleukin-7 receptor, alpha chain