Immunoglobulin heavy chain locus chromosomal translocations in B-cell precursor acute lymphoblastic leukemia: rare clinical curios or potent genetic drivers?

Blood. 2010 Feb 25;115(8):1490-9. doi: 10.1182/blood-2009-09-235986. Epub 2009 Dec 30.

Abstract

Chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus define common subgroups of B-cell lymphoma but are rare in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Recent fluorescent in situ hybridization and molecular cloning studies have identified several novel IGH translocations involving genes that play important roles in normal hemopoiesis, including the cytokine receptor genes CRLF2 and EPOR, all members of the CCAAT enhancer-binding protein gene family, as well as genes not normally expressed in hemopoietic cells including inhibitor of DNA binding 4. IGH translocation results in deregulated target gene expression because of juxtaposition with IGH transcriptional enhancers. However, many genes targeted by IGH translocations are also more commonly deregulated in BCP-ALL as a consequence of other genetic or epigenetic mechanisms. For example, interstitial genomic deletions also result in deregulated CRLF2 expression, whereas EPOR expression is deregulated as a consequence of the ETV6-RUNX1 fusion. The possible clinical importance of many of the various IGH translocations in BCP-ALL remains to be determined from prospective studies, but CRLF2 expression is associated with a poor prognosis. Despite their rarity, IGH chromosomal translocations in BCP-ALL therefore define not only new mechanisms of B-cell transformation but also clinically important subgroups of disease and suggest new targeted therapeutic approaches.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acute Disease
  • Animals
  • B-Lymphocytes / metabolism*
  • Cell Transformation, Neoplastic / genetics
  • Cell Transformation, Neoplastic / metabolism*
  • Core Binding Factor Alpha 2 Subunit / biosynthesis
  • Core Binding Factor Alpha 2 Subunit / genetics
  • Gene Expression Regulation, Leukemic / genetics
  • Hematopoiesis / genetics
  • Humans
  • Immunoglobulin Heavy Chains / genetics
  • Immunoglobulin Heavy Chains / metabolism*
  • Inhibitor of Differentiation Proteins / biosynthesis
  • Inhibitor of Differentiation Proteins / genetics
  • Oncogene Proteins, Fusion / biosynthesis
  • Oncogene Proteins, Fusion / genetics
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / diagnosis
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / genetics
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / metabolism*
  • Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / therapy
  • Prognosis
  • Quantitative Trait Loci*
  • Receptors, Cytokine / biosynthesis
  • Receptors, Cytokine / genetics
  • Receptors, Erythropoietin / biosynthesis
  • Receptors, Erythropoietin / genetics
  • Translocation, Genetic*

Substances

  • CRLF2 protein, human
  • Core Binding Factor Alpha 2 Subunit
  • ID4 protein, human
  • Immunoglobulin Heavy Chains
  • Inhibitor of Differentiation Proteins
  • Oncogene Proteins, Fusion
  • Receptors, Cytokine
  • Receptors, Erythropoietin
  • TEL-AML1 fusion protein