Gene fusion

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Gene fusion is a common event in cancer and a re-occuring theme in molecular pathology. It is hybrid of two coding or regulatory DNA sequences.

General

Caused by genomic rearrangements such as:

  • translocation.
  • deletion.
  • duplication.
  • inversion.

First fusion was described as BCR-ABL1 fusion in CML. Subsequently Imatinib was the first inhibitor targeting CML with BCR-ABL1 fusion.

Methodology

Gene fusions can be detected by:

  • RT-PCR (fusion partners need to be known).
  • FISH.
  • RNA-Sequencing.
  • Whole Genome sequencing (WGS) (Comprehensive and unbiased, but short read length).
  • Immunohistochemistry (not suitable/available for all fusions).

Examples

Common fusion in Neuropathology:

See also