ABL1 fusion genes in hematological malignancies: a review

Eur J Haematol. 2011 May;86(5):361-71. doi: 10.1111/j.1600-0609.2011.01586.x. Epub 2011 Mar 23.


Chromosomal rearrangements involving the ABL1 gene, leading to a BCR-ABL1 fusion gene, have been mainly associated with chronic myeloid leukemia and B-cell acute lymphoblastic leukemia (ALL). At present, six other genes have been shown to fuse to ABL1. The kinase domain of ABL1 is retained in all chimeric proteins that are also composed of the N-terminal part of the partner protein that often includes a coiled-coil or a helix-loop-helix domain. These latter domains allow oligomerization of the protein that is required for tyrosine kinase activation, cytoskeletal localization, and neoplastic transformation. Fusion genes that have a break in intron 1 or 2 (BCR-ABL1, ETV6-ABL1, ZMIZ1-ABL1, EML1-ABL1, and NUP214-ABL1) have transforming activity, although NUP214-ABL1 requires amplification to be efficient. The NUP214-ABL1 gene is the second most prevalent fusion gene involving ABL1 in malignant hemopathies, with a frequency of 5% in T-cell ALL. Both fusion genes (SFPQ-ABL1 and RCSD1-ABL1) characterized by a break in intron 4 of ABL1 are associated with B-cell ALL, as the chimeric proteins lacked the SH2 domain of ABL1. Screening for ABL1 chimeric genes could be performed in patients with ALL, more particularly in those with T-cell ALL because ABL1 modulates T-cell development and plays a role in cytoskeletal remodeling processes in T cells.

Publication types

  • Review

MeSH terms

  • Cell Transformation, Neoplastic / genetics
  • Genes, abl*
  • Hematologic Neoplasms / chemistry
  • Hematologic Neoplasms / genetics*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Oncogene Fusion*
  • Oncogene Proteins v-abl / antagonists & inhibitors
  • Oncogene Proteins v-abl / chemistry
  • Oncogene Proteins v-abl / genetics
  • Oncogene Proteins, Fusion / genetics
  • PTB-Associated Splicing Factor
  • Protein-Tyrosine Kinases / genetics
  • RNA-Binding Proteins / genetics
  • Transcription Factors / genetics


  • EML1-ABL1 fusion protein, human
  • Intracellular Signaling Peptides and Proteins
  • NUP214-ABL1 fusion protein, human
  • Oncogene Proteins v-abl
  • Oncogene Proteins, Fusion
  • PTB-Associated Splicing Factor
  • RCSD1 protein, human
  • RNA-Binding Proteins
  • TEL-ABL fusion protein, human
  • Transcription Factors
  • ZMIZ1 protein, human
  • Protein-Tyrosine Kinases