GIST Tumour Testing
GIST testing is currently carried out by bi-directional Sanger sequencing, which is judged to have an approximate sensitivity of 25%.
Exons tested: KIT exon 9, 11, 13, 17 and PDGFRA exons 12, 14 and 18.
A two tier testing strategy is currently employed:
1) PCR and sequencing of KIT exons 9 and 11, and PDGFRA exon 18 are performed. Any mutations detected are reported.
2) If no mutations were detected in KIT exons 9,11 and PDGFRA 18, PCR and sequencing of KIT exons 13 and 17, and PDGFRA exon 12 and 14 are performed, and all results reported.
Sanger sequencing showing KIT exon 9 mutation in a GIST
Reports will describe KIT and PDGFRA mutation status.
Results will be integrated into histopathology report and external referrals can be posted/ e-mailed to a secure nhs.net address.