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

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
0007-1048
77-81
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.
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), 77-81. (doi:10.1111/j.1365-2141.2007.06628.x).

Record type: Article

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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More information

Published date: 6 June 2007
Keywords: PDGFRA, ETV6, STRN, chronic eosinophilic leukaemia, imatinib

Identifiers

Local EPrints ID: 59637
URI: https://eprints.soton.ac.uk/id/eprint/59637
ISSN: 0007-1048
PURE UUID: 89b62427-016f-47fa-b0e3-86bf4770654c
ORCID for F.H. Grand: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 04 Sep 2008
Last modified: 14 Mar 2019 01:46

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Contributors

Author: C.E. Curtis
Author: F.H. Grand ORCID iD
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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