Translocation t(2;11) in CLL cells results in CXCR4/MAML2 fusion oncogene

Blood. 2014 Jul 10;124(2):259-62. doi: 10.1182/blood-2014-02-554675. Epub 2014 May 22.

Abstract

Recent investigations of chromosomal aberrations in chronic lymphocytic leukemia (CLL) led to a better understanding of the molecular causes of CLL. Here we report a rearrangement between MAML2 (mastermind-like protein 2) and CXCR4 (specific receptor for CXC chemokine stromal cell-derived factor-1) in CLL cells of a patient with a t(2;11)(q22.1;q21) chromosomal translocation. The rearrangement between MAML2 and CXCR4, created by a t(2;11)(q22.1;q21) translocation, results in a new fusion gene in which a portion of CXCR4 is linked to the MAML2 gene. This fusion gene encodes for CXCR4/MAML2 protein chimera in which the N-terminal basic domain of MAML2 is replaced by the N-terminal domain of CXCR4.

Publication types

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

MeSH terms

  • Animals
  • Base Sequence
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 2 / genetics*
  • Cytogenetic Analysis
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • Humans
  • Hybrid Cells / metabolism
  • Hybrid Cells / pathology
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics*
  • Leukemia, Lymphocytic, Chronic, B-Cell / pathology
  • Mice
  • Nuclear Proteins / chemistry
  • Nuclear Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Receptors, CXCR4 / chemistry
  • Receptors, CXCR4 / genetics*
  • Trans-Activators
  • Transcription Factors / chemistry
  • Transcription Factors / genetics*
  • Translocation, Genetic*
  • Tumor Cells, Cultured

Substances

  • CXCR4 protein, human
  • DNA-Binding Proteins
  • MAML2 protein, human
  • Nuclear Proteins
  • Oncogene Proteins, Fusion
  • Receptors, CXCR4
  • Trans-Activators
  • Transcription Factors