Difference between revisions of "Gene fusion"
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* Whole Genome sequencing (WGS) (Comprehensive and unbiased, but short read length). | * Whole Genome sequencing (WGS) (Comprehensive and unbiased, but short read length). | ||
* [[Immunohistochemistry]] (not suitable/available for all fusions). | * [[Immunohistochemistry]] (not suitable/available for all fusions). | ||
==Examples== | |||
Common fusion in [[Neuropathology]]: | |||
* KIAA1549-BRAF fusion in [[pilocytic astrocytoma]] (up to 70%). | |||
* NAB2-STAT6 fusion in [[Solitary fibrous tumour]]. | |||
* RELA fusion in supratentorial [[ependymoma]] (up to 70% in children). | |||
Revision as of 08:21, 4 October 2018
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:
- KIAA1549-BRAF fusion in pilocytic astrocytoma (up to 70%).
- NAB2-STAT6 fusion in Solitary fibrous tumour.
- RELA fusion in supratentorial ependymoma (up to 70% in children).