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Gene | ETV6 PDGFRA |
Variant | ETV6 - PDGFRA |
Impact List | fusion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | ETV6-PDGFRA results from the fusion of ETV6 and PDGFRA and is responsive to Pdgfra inhibition (PMID: 17555450), and therefore, is predicted to result in a gain of protein function. ETV6-PDGFRA has been identified in chronic eosinophilic leukemia (PMID: 24975316). |
Associated Drug Resistance |
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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ETV6 - PDGFRA | gain of function - predicted |