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Two novel imatinib‐responsive PDGFRA fusion genes in chronic eosinophilic leukaemia

We identified two patients with a t(2;4)(p24;q12) and a t(4;12)(q2?3;p1?2), respectively, in association with BCR‐ABL and FIP1L1‐PDGFRA negative chronic eosinophilic leukaemia. Molecular analysis revealed a novel STRN‐PDGFRA fusion for the t(2;4) and ETV6‐PDGFRA for the t(4;12). The fusions were confirmed by specific amplification of the genomic breakpoints, reverse transcription polymerase chain reaction and fluorescence in situ hybridisation. Both patients were treated with imatinib and, following a rapid haematological response, achieved cytogenetic remission and a major molecular response. In conclusion, PDGFRA fuses to diverse partner genes in myeloid disorders. Identification of these fusions is important as they are particularly sensitive to imatinib.