| Literature DB >> 17555450 |
Claire E Curtis1, Francis H Grand, Pellegrino Musto, Andrew Clark, John Murphy, Gianni Perla, Maria M Minervini, Janet Stewart, Andreas Reiter, Nicholas C P Cross.
Abstract
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.Entities:
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Year: 2007 PMID： 17555450 DOI： 10.1111/j.1365-2141.2007.06628.x
Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998