Premium
Two novel imatinib‐responsive PDGFRA fusion genes in chronic eosinophilic leukaemia
Author(s) -
Curtis Claire E.,
Grand Francis H.,
Musto Pellegrino,
Clark Andrew,
Murphy John,
Perla Gianni,
Minervini Maria M.,
Stewart Janet,
Reiter Andreas,
Cross Nicholas C. P.
Publication year - 2007
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2007.06628.x
Subject(s) - pdgfra , imatinib , fusion gene , cancer research , chronic myeloid leukaemia , imatinib mesylate , breakpoint , abl , fluorescence in situ hybridization , polymerase chain reaction , medicine , myeloid leukemia , biology , chromosomal translocation , tyrosine kinase , gene , gist , genetics , receptor , stromal cell , chromosome
Summary 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.