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RecurrentCEP85L-PDGFRBfusion in a patient with a t(5;6) and an imatinib-responsive myeloproliferative neoplasm with eosinophilia

RecurrentCEP85L-PDGFRBfusion in a patient with a t(5;6) and an imatinib-responsive myeloproliferative neoplasm with eosinophilia
RecurrentCEP85L-PDGFRBfusion in a patient with a t(5;6) and an imatinib-responsive myeloproliferative neoplasm with eosinophilia
Fusion genes involving the catalytic domain of tyrosine kinases (TKs) play an important role in the pathogenesis of hematological malignancies and solid tumors. In BCR-ABL1-negative myeloproliferative neoplasms (MPNs) several different tyrosine kinase fusion events have been described, most commonly involving the genes encoding the platelet-derived growth factor receptor alpha (PDGFRA) or beta (PDGFRB). Since the introduction of small molecule kinase inhibitors, TK fusions have emerged as prime therapeutic targets. Here, we report a recurrent CEP85L-PDGFRB fusion in a patient with eosinophilia and an MPN. The fusion was confirmed by specific amplification of the genomic breakpoints and reverse transcription polymerase chain reaction (PCR).The patient was treated with imatinib and achieved hematologic and cytogenetic remission. Minimal residual disease screening over 3 years with nested PCR failed to detect CEP85L-PDGFRB mRNA or genomic DNA, confirming a long term molecular remission on imatinib


1042-8194
1527-1531
Winkelmann, Nils
b563bf37-a957-41ac-9caf-f3caf170d35b
Hidalgo-Curtis, Claire
5aaa8cfa-7271-48ee-8538-27736ab3eaf2
Waghorn, Katherine
60a6a26d-556b-41fc-84ee-dab95d63ab68
Score, Joannah
ea0db6ef-c17e-4915-b216-ac67c07b26b7
Dickinson, Helen
2f826b28-591e-435c-94dd-ad40ce9e5643
Jack, Andrew
d5359586-e37e-4f31-8c2a-b15959a43d4c
Ali, Sahra
7cbe950d-8199-4777-b7d7-7eb7a0e73328
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Winkelmann, Nils
b563bf37-a957-41ac-9caf-f3caf170d35b
Hidalgo-Curtis, Claire
5aaa8cfa-7271-48ee-8538-27736ab3eaf2
Waghorn, Katherine
60a6a26d-556b-41fc-84ee-dab95d63ab68
Score, Joannah
ea0db6ef-c17e-4915-b216-ac67c07b26b7
Dickinson, Helen
2f826b28-591e-435c-94dd-ad40ce9e5643
Jack, Andrew
d5359586-e37e-4f31-8c2a-b15959a43d4c
Ali, Sahra
7cbe950d-8199-4777-b7d7-7eb7a0e73328
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4

Winkelmann, Nils, Hidalgo-Curtis, Claire, Waghorn, Katherine, Score, Joannah, Dickinson, Helen, Jack, Andrew, Ali, Sahra and Cross, Nicholas C.P. (2013) RecurrentCEP85L-PDGFRBfusion in a patient with a t(5;6) and an imatinib-responsive myeloproliferative neoplasm with eosinophilia. Leukemia and Lymphoma, 54 (7), 1527-1531. (doi:10.3109/10428194.2012.753544).

Record type: Article

Abstract

Fusion genes involving the catalytic domain of tyrosine kinases (TKs) play an important role in the pathogenesis of hematological malignancies and solid tumors. In BCR-ABL1-negative myeloproliferative neoplasms (MPNs) several different tyrosine kinase fusion events have been described, most commonly involving the genes encoding the platelet-derived growth factor receptor alpha (PDGFRA) or beta (PDGFRB). Since the introduction of small molecule kinase inhibitors, TK fusions have emerged as prime therapeutic targets. Here, we report a recurrent CEP85L-PDGFRB fusion in a patient with eosinophilia and an MPN. The fusion was confirmed by specific amplification of the genomic breakpoints and reverse transcription polymerase chain reaction (PCR).The patient was treated with imatinib and achieved hematologic and cytogenetic remission. Minimal residual disease screening over 3 years with nested PCR failed to detect CEP85L-PDGFRB mRNA or genomic DNA, confirming a long term molecular remission on imatinib


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e-pub ahead of print date: 27 November 2012
Published date: January 2013
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 346374
URI: http://eprints.soton.ac.uk/id/eprint/346374
ISSN: 1042-8194
PURE UUID: ada00a5b-ec74-4f46-83ec-54bdc07ca221
ORCID for Nicholas C.P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 02 Jan 2013 08:47
Last modified: 09 Jan 2022 03:08

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Contributors

Author: Nils Winkelmann
Author: Claire Hidalgo-Curtis
Author: Katherine Waghorn
Author: Joannah Score
Author: Helen Dickinson
Author: Andrew Jack
Author: Sahra Ali

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