Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia

Claire E. Curtis, Francis H. Grand, Pellegrino Musto, Andrew Clark, John Murphy, Gianni Perla, Maria M. Minervini, Janet Stewart, Andreas Reiter, Nicholas C P Cross

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)77-81
Number of pages5
JournalBritish Journal of Haematology
Volume138
Issue number1
DOIs
Publication statusPublished - Jul 2007

Keywords

  • Chronic eosinophilic leukaemia
  • ETV6
  • Imatinib
  • PDGFRA
  • STRN

ASJC Scopus subject areas

  • Hematology

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    Curtis, C. E., Grand, F. H., Musto, P., Clark, A., Murphy, J., Perla, G., Minervini, M. M., Stewart, J., Reiter, A., & Cross, N. C. P. (2007). Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia. British Journal of Haematology, 138(1), 77-81. https://doi.org/10.1111/j.1365-2141.2007.06628.x