Difference between revisions of "Gene fusion"

Latest revision as of 08:23, 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.

Caused by genomic rearrangements such as:

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

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).

Common fusion in Neuropathology:

@@ Line 7: / Line 7: @@
 * 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).
+==See also==
+*[[Molecular pathology]].
+*[[Oncogene]].
+[[Category:Molecular pathology]]