PDGFRB activation has been observed in patients with chronic myelomonocytic leukemia/atypical chronic myeloid leukemia and has been associated with over 50 translocation partners, the best known is the ETV6 gene on 12p13, causing a t(5;12) translocation. Cytogenetic responses are achieved with imatinib in patients with PDGFRB fusion positive, BCR / ABL1 negative CMPDs. The PDGFRB (5q32) Break FISH probe is optimized to detect translocations involving the PDGFRB region at 5q32 in a dual-color, split assay.
References:
Wlodarska et al, 1997, Blood, 89; 1716-1722.
Wilkinson et al, 2003, Blood, 102; 4287-419.