Fusion of PDGFRB to two distinct loci at 3p21 and a third at 12q13 in imatinib-responsive myeloproliferative neoplasms
Fusion of PDGFRB to two distinct loci at 3p21 and a third at 12q13 in imatinib-responsive myeloproliferative neoplasms
We identified four patients who presented with BCR-ABL1 negative myeloproliferative neoplasms and cytogenetically visible abnormalities of chromosome band 5q31-35. Fluorescence in situ hybridization indicated that the platelet-derived growth factor receptor ? gene (PDGFRB) was disrupted in all four cases and 5' rapid amplification of cDNA ends identified in-frame mRNA fusions between PDGFRB and WDR48 (3p21), GOLGA4 (3p21) and BIN2 (12q13). Strikingly, all three genes encode proteins involving intracellular trafficking. Imatinib, a known inhibitor of PDGFR?, selectively blocked the growth of t(3;5) myeloid colonies and produced clinically significant responses in all patients. We conclude that PDGFRB fuses to diverse partner genes in atypical myeloproliferative neoplasms (MPNs). Although very rare, identification of these fusions is critical for proper management of affected individuals
268-273
Hidalgo-Curtis, Claire
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Apperley, Jane F.
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Stark, Anthony
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Jeng, Michael
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Gotlib, Jason
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Chase, Andrew
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Cross, Nicholas C.P.
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Grand, Francis H.
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January 2010
Hidalgo-Curtis, Claire
5aaa8cfa-7271-48ee-8538-27736ab3eaf2
Apperley, Jane F.
bb44333d-1437-4eb8-876a-37332e9ffcbc
Stark, Anthony
f37ba65d-dc1f-497a-9e49-930a89ec5847
Jeng, Michael
c989ba5a-b96f-4ad0-99fd-ae54fe6bb549
Gotlib, Jason
b9586ecc-826a-48aa-9a0d-32e871da28dd
Chase, Andrew
a40a09c2-3073-4655-ba0b-a802e34914b5
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Grand, Francis H.
89bd846f-638a-4bda-b8a9-8a1989021b31
Hidalgo-Curtis, Claire, Apperley, Jane F., Stark, Anthony, Jeng, Michael, Gotlib, Jason, Chase, Andrew, Cross, Nicholas C.P. and Grand, Francis H.
(2010)
Fusion of PDGFRB to two distinct loci at 3p21 and a third at 12q13 in imatinib-responsive myeloproliferative neoplasms.
British Journal of Haematology, 148 (2), .
(doi:10.1111/j.1365-2141.2009.07955.x).
Abstract
We identified four patients who presented with BCR-ABL1 negative myeloproliferative neoplasms and cytogenetically visible abnormalities of chromosome band 5q31-35. Fluorescence in situ hybridization indicated that the platelet-derived growth factor receptor ? gene (PDGFRB) was disrupted in all four cases and 5' rapid amplification of cDNA ends identified in-frame mRNA fusions between PDGFRB and WDR48 (3p21), GOLGA4 (3p21) and BIN2 (12q13). Strikingly, all three genes encode proteins involving intracellular trafficking. Imatinib, a known inhibitor of PDGFR?, selectively blocked the growth of t(3;5) myeloid colonies and produced clinically significant responses in all patients. We conclude that PDGFRB fuses to diverse partner genes in atypical myeloproliferative neoplasms (MPNs). Although very rare, identification of these fusions is critical for proper management of affected individuals
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Published date: January 2010
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Local EPrints ID: 72123
URI: http://eprints.soton.ac.uk/id/eprint/72123
ISSN: 0007-1048
PURE UUID: 6ecaebc6-f402-4c15-afe5-dc192dd1348f
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Date deposited: 25 Jan 2010
Last modified: 14 Mar 2024 02:46
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Author:
Claire Hidalgo-Curtis
Author:
Jane F. Apperley
Author:
Anthony Stark
Author:
Michael Jeng
Author:
Jason Gotlib
Author:
Francis H. Grand
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