Deregulated expression of cytokine receptor gene, CRLF2, is involved in lymphoid transformation in B-cell precursor acute lymphoblastic leukemia

Blood. 2009 Sep 24;114(13):2688-98. doi: 10.1182/blood-2009-03-208397. Epub 2009 Jul 29.

Abstract

We report 2 novel, cryptic chromosomal abnormalities in precursor B-cell acute lymphoblastic leukemia (BCP-ALL): a translocation, either t(X;14)(p22;q32) or t(Y;14)(p11;q32), in 33 patients and an interstitial deletion, either del(X)(p22.33p22.33) or del(Y)(p11.32p11.32), in 64 patients, involving the pseudoautosomal region (PAR1) of the sex chromosomes. The incidence of these abnormalities was 5% in childhood ALL (0.8% with the translocation, 4.2% with the deletion). Patients with the translocation were older (median age, 16 years), whereas the patients with the deletion were younger (median age, 4 years). The 2 abnormalities result in deregulated expression of the cytokine receptor, cytokine receptor-like factor 2, CRLF2 (also known as thymic stromal-derived lymphopoietin receptor, TSLPR). Overexpression of CRLF2 was associated with activation of the JAK-STAT pathway in cell lines and transduced primary B-cell progenitors, sustaining their proliferation and indicating a causal role of CRLF2 overexpression in lymphoid transformation. In Down syndrome (DS) ALL and 2 non-DS BCP-ALL cell lines, CRLF2 deregulation was associated with mutations of the JAK2 pseudokinase domain, suggesting oncogenic cooperation as well as highlighting a link between non-DS ALL and JAK2 mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Animals
  • Cell Transformation, Neoplastic / genetics*
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 14
  • Embryo, Mammalian
  • Gene Deletion
  • Gene Expression Regulation, Leukemic
  • Humans
  • Infant
  • Lymphocytes / metabolism
  • Lymphocytes / pathology*
  • Mice
  • Mice, Inbred C57BL
  • Middle Aged
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / pathology
  • Receptors, Cytokine / genetics*
  • Receptors, Cytokine / metabolism
  • Translocation, Genetic
  • Young Adult

Substances

  • CRLF2 protein, human
  • Receptors, Cytokine