Probes: PDGFRA (4q12) | Centromere 4
Disease(s): Brain cancer
Amplifications of PDGFRA as detected by FISH occur in approximately 30% of pediatric and 20% of adult high-grade astrocytomas. In de novo adult glioblastoma multiforme (GBM), the co-occurrence of PDGFRA amplification with IDH1 mutation is associated with significantly worse overall survival compared to patients negative for amplification. Clinical trials with tyrosine kinase inhibitors targeting activated or over-expressed PDGFRA are in progress.
Bone marrow aspirate: N/A
Peripheral blood: N/A
Fresh, unfixed tissue: N/A
Paraffin block: Send paraffin block. Also send circled H&E slide for tech-only (required).
Cut slides: H&E slide (required) plus 4 unstained slides cut at 4-5 microns. Circle H&E slide for tech-only.
Use cold pack for transport. Make sure cold pack is not in direct contact with specimen.