FIP1L1 / CHIC2 / PDGFRA (4q12) Deletion, Break probe hybridized to a normal interphase/metaphase (2RG).
IVD FIP1L1/CHIC2 /PDGFRA Dual-Color
The deletion of the CHIC2 locus generates a fusion FIP1L1-PDGFRA gene giving raise to a novel tyrosine kinase. This deletion has been observed in patients with idiophatic hypereosinophilic syndrome (HES), chronic eosinophilic leukemia (CEL), systemic mast cell disease, and chronic myeloproiferative disorders (CMPD). The FIP1L1/CHIC2/PDGFRA FISH probe is optimized to detect the CHIC2 deletion at 4q12 associated with the FIP1L1/PDGFRA fusion in a Dual-Color, split assay. It also allows the detection of translocation involving the FIP1L1 and PDGFRA region. However, chromosome 4 polyploidy may provide additional signals not associated with a translocation involving 4q12.
References: Cools et al, N Engl J Med, 2003, 348; 1201-1214. Godlib et al, Blood, 2004, 103; 2879-2891.