Difference between revisions of "Gene fusion"
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First fusion was described as BCR-ABL1 fusion in [[CML]]. Subsequently [[Imatinib]] was the first inhibitor targeting CML with BCR-ABL1 fusion. | 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). | |||
Revision as of 08:18, 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).