Oncogenic IL7R gain-of-function mutations in childhood T-cell acute lymphoblastic leukemia

Nat Genet. 2011 Sep 4;43(10):932-9. doi: 10.1038/ng.924.

Abstract

Interleukin 7 (IL-7) and its receptor, formed by IL-7Rα (encoded by IL7R) and γc, are essential for normal T-cell development and homeostasis. Here we show that IL7R is an oncogene mutated in T-cell acute lymphoblastic leukemia (T-ALL). We find that 9% of individuals with T-ALL have somatic gain-of-function IL7R exon 6 mutations. In most cases, these IL7R mutations introduce an unpaired cysteine in the extracellular juxtamembrane-transmembrane region and promote de novo formation of intermolecular disulfide bonds between mutant IL-7Rα subunits, thereby driving constitutive signaling via JAK1 and independently of IL-7, γc or JAK3. IL7R mutations induce a gene expression profile partially resembling that provoked by IL-7 and are enriched in the T-ALL subgroup comprising TLX3 rearranged and HOXA deregulated cases. Notably, IL7R mutations promote cell transformation and tumor formation. Overall, our findings indicate that IL7R mutational activation is involved in human T-cell leukemogenesis, paving the way for therapeutic targeting of IL-7R-mediated signaling in T-ALL.

Publication types

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

MeSH terms

  • Animals
  • Cell Cycle
  • Cell Line
  • Cell Survival
  • Child
  • Cysteine / genetics
  • Cysteine / metabolism
  • DNA Mutational Analysis
  • Exons
  • Gene Expression Profiling
  • Gene Expression Regulation, Leukemic
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Humans
  • Interleukin-7 / genetics
  • Interleukin-7 / metabolism
  • Janus Kinase 1 / genetics
  • Janus Kinase 1 / metabolism
  • Janus Kinase 3 / genetics
  • Janus Kinase 3 / metabolism
  • Mice
  • Mice, Knockout
  • Mutation
  • Oncogenes*
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • RNA, Small Interfering / genetics
  • RNA, Small Interfering / metabolism
  • Receptors, Interleukin-7 / genetics*
  • Receptors, Interleukin-7 / metabolism
  • Sequence Analysis, DNA
  • Signal Transduction*
  • T-Lymphocytes / metabolism
  • Transfection
  • Tumor Cells, Cultured

Substances

  • Homeodomain Proteins
  • Interleukin-7
  • RNA, Small Interfering
  • Receptors, Interleukin-7
  • TLX3 protein, human
  • JAK1 protein, human
  • JAK3 protein, human
  • Janus Kinase 1
  • Janus Kinase 3
  • Cysteine