Reference Detail

Ref Type Journal Article
PMID (17555450)
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
Vol 138
Issue 1
Date 2007 Jul
URL
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.

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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
Variant Impact Protein Effect Variant Description Associated with drug Resistance
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