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.
Curtis
Claire E
CE
Wessex Regional Genetics Laboratory, University of Southampton, Salisbury, UK.
Grand
Francis H
FH
Musto
Pellegrino
P
Clark
Andrew
A
Murphy
John
J
Perla
Gianni
G
Minervini
Maria M
MM
Stewart
Janet
J
Reiter
Andreas
A
Cross
Nicholas C P
NC
D000970:Antineoplastic Agents / Q000627:therapeutic use*; D001549:Benzamides; D002148:Calmodulin-Binding Proteins / Q000235:genetics; D002881:Chromosomes, Human, Pair 12; D002889:Chromosomes, Human, Pair 2; D002894:Chromosomes, Human, Pair 4; D006801:Humans; D017681:Hypereosinophilic Syndrome / Q000188:drug therapy / Q000235:genetics*; D000068877:Imatinib Mesylate; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics; D050596:Oncogene Fusion; D010879:Piperazines / Q000627:therapeutic use*; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics; D011743:Pyrimidines / Q000627:therapeutic use*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
D000970:Antineoplastic Agents; D001549:Benzamides; D002148:Calmodulin-Binding Proteins; D000068877:Imatinib Mesylate; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D010879:Piperazines; D050783:Proto-Oncogene Proteins c-ets; D011743:Pyrimidines; D020796:Receptor, Platelet-Derived Growth Factor alpha; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein; C491925:STRN protein, human