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|Ref Type||Journal Article|
|Authors||Curtis CE, Grand FH, Musto P, Clark A, Murphy J, Perla G, Minervini MM, Stewart J, Reiter A, Cross NC|
|Title||Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia.|
|Journal||British journal of haematology|
|Abstract Text||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.|
|Molecular Profile||Treatment Approach|
|Gene Name||Source||Synonyms||Protein Domains||Gene Description||Gene Role|
|Therapy Name||Drugs||Efficacy Evidence||Clinical Trials|
|Drug Name||Trade Name||Synonyms||Drug Classes||Drug Description|
|Gene||Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|ETV6 PDGFRA||ETV6 - PDGFRA||fusion||gain of function - predicted||ETV6-PDGFRA results from the fusion of ETV6 and PDGFRA (PMID: 17555450). ETV6-PDGFRA is responsive to Pdgfra inhibition and therefore, the fusion is predicted to result in a gain of function (PMID: 17555450).|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|ETV6 - PDGFRA||chronic leukemia||predicted - sensitive||Imatinib||Case Reports/Case Series||Actionable||In a clinical case report, a patient with ETV6-PDGFRA positive chronic eosinophilic leukemia experienced complete cytogenic remission after treatment with Gleevec (imatinib) (PMID: 17555450).||17555450|