The ZytoLight SPEC PDGFRA/FIP1L1 TriCheckTM Probe is designed to detect rearrangements involving the PDGFRA gene. PDGFRA gene rearrangements most frequently occur in chronic eosinophilic leukemia (CEL), but can be also detected in AML, and T-ALL. The most common gene fusion is FIP1L1-PDGFRA caused by an 800 kb interstitial deletion on chromosome 4q12. Five other partner genes have been identified, including BCR, ETV6, KIF5B, STRN, and CDK5RAP2. Identification of patients harboring a PDGFRA rearrangement is important as these patients respond to a targeted therapy with imatinib. Hence, detection of PDGFRA rearrangements by FISH may be of diagnostic and predictive relevance.
