Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia
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.
PDGFRA, ETV6, STRN, chronic eosinophilic leukaemia, imatinib
77-81
Curtis, C.E.
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Grand, F.H.
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Musto, P.
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Clark, A.
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Murphy, J.
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Perla, G.
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Minervini, M.M.
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Stewart, J.
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Reiter, A.
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Cross, N.C.
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6 June 2007
Curtis, C.E.
a3e6ee40-bc80-4d94-9ef6-048868ea5a94
Grand, F.H.
f87650da-b908-4a34-b31b-d62c5f186fe4
Musto, P.
3ff47f2d-9352-47c0-8ac2-e5efbdfe7c5a
Clark, A.
a0e342fa-5166-481d-84e1-28468fb92ae7
Murphy, J.
ac5964f7-48bd-424f-9cc6-6faa2b36e590
Perla, G.
ef3a5b2d-638f-47bf-9426-9628c1c9baf2
Minervini, M.M.
d8fc9127-4b7b-452d-8149-d47cb4bcfd4b
Stewart, J.
856808fb-3362-46ea-b9ed-aa64db4fc983
Reiter, A.
8fc082eb-6b46-4412-86b2-f4c7669f0650
Cross, N.C.
6b31788a-9b23-4938-ace2-5610032377a3
Curtis, C.E., Grand, F.H., Musto, P., Clark, A., Murphy, J., Perla, G., Minervini, M.M., Stewart, J., Reiter, A. and Cross, N.C.
(2007)
Two novel imatinib-responsive PDGFRA fusion genes in chronic eosinophilic leukaemia.
British Journal of Haematology, 138 (1), .
(doi:10.1111/j.1365-2141.2007.06628.x).
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.
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Published date: 6 June 2007
Keywords:
PDGFRA, ETV6, STRN, chronic eosinophilic leukaemia, imatinib
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Local EPrints ID: 59637
URI: http://eprints.soton.ac.uk/id/eprint/59637
ISSN: 0007-1048
PURE UUID: 89b62427-016f-47fa-b0e3-86bf4770654c
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Date deposited: 04 Sep 2008
Last modified: 16 Mar 2024 03:23
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Contributors
Author:
C.E. Curtis
Author:
P. Musto
Author:
A. Clark
Author:
J. Murphy
Author:
G. Perla
Author:
M.M. Minervini
Author:
J. Stewart
Author:
A. Reiter
Author:
N.C. Cross
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