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Fusion of PDGFRB to MPRIP, CPSF6, and GOLGB1in three patients with eosinophilia-associated myeloproliferative neoplasms

Fusion of PDGFRB to MPRIP, CPSF6, and GOLGB1in three patients with eosinophilia-associated myeloproliferative neoplasms
Fusion of PDGFRB to MPRIP, CPSF6, and GOLGB1in three patients with eosinophilia-associated myeloproliferative neoplasms
In eosinophilia-associated myeloproliferative neoplasms (MPN-eo), constitutive activation of protein tyrosine kinases (TK) as consequence of translocations, inversions, or insertions and creation of TK fusion genes is recurrently observed. The most commonly involved TK and their potential TK inhibitors include PDGFRA at 4q12 or PDGFRB at 5q33 (imatinib), FGFR1 at 8p11 (ponatinib), and JAK2 at 9p24 (ruxolitinib). We here report the identification of three new PDGFRB fusion genes in three male MPN-eo patients: MPRIP-PDGFRB in a case with t(5;17)(q33;p11), CPSF6-PDGFRB in a case with t(5;12)(q33;q15), and GOLGB1-PDGFRB in a case with t(3;5)(q13;q33). The fusion proteins identified by 5?-rapid amplification of cDNA ends polymerase chain reaction (PCR) or DNA-based long distance inverse PCR are predicted to contain the TK domain of PDGFRB. The partner genes contain domains like coiled-coil structures, which are likely to cause dimerization and activation of the TK. In all patients, imatinib induced rapid and durable complete remissions.
1098-2264
762-770
Naumann, Nicole
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Schwaab, Juliana
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Metzgeroth, Georgia
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Jawhar, Mohamad
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Haferlach, Claudia
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Göhring, Gudrun
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Schlegelberger, Brigitte
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Dietz, Christian T.
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Schnittger, Susanne
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Lotfi, Sina
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Gärtner, Michael
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Dang, Tu-Anh
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Hofmann, Wolf-Karsten
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Cross, Nicholas C. P.
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Reiter, Andreas
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Fabarius, Alice
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Naumann, Nicole
43566136-d964-415e-be36-45aeb4f88965
Schwaab, Juliana
d63ed545-a6fc-4815-ab86-f901e55c2a2f
Metzgeroth, Georgia
611ec46d-9a11-4e24-ae0f-5ac19dfd0237
Jawhar, Mohamad
a608a215-173b-47bd-89eb-a8de2fe595aa
Haferlach, Claudia
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Göhring, Gudrun
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Schlegelberger, Brigitte
5a42d72a-138f-454a-a865-4269f809b743
Dietz, Christian T.
4a7f31b1-17ea-467d-a2e2-63dfa113ee07
Schnittger, Susanne
5157942c-96eb-47cd-9837-3feea8ec8984
Lotfi, Sina
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Gärtner, Michael
e4f261be-0515-46d2-81a0-4ddd31428dd9
Dang, Tu-Anh
62e6e80a-5737-4433-9151-62333a685abf
Hofmann, Wolf-Karsten
ab66838b-bf8c-4352-a0f0-3c8aafed2570
Cross, Nicholas C. P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Reiter, Andreas
ffa23e84-4a13-4cb5-aaf0-3fafe25dbede
Fabarius, Alice
5c31b1e0-c6da-49b8-843a-5b0ca736e5a2

Naumann, Nicole, Schwaab, Juliana, Metzgeroth, Georgia, Jawhar, Mohamad, Haferlach, Claudia, Göhring, Gudrun, Schlegelberger, Brigitte, Dietz, Christian T., Schnittger, Susanne, Lotfi, Sina, Gärtner, Michael, Dang, Tu-Anh, Hofmann, Wolf-Karsten, Cross, Nicholas C. P., Reiter, Andreas and Fabarius, Alice (2015) Fusion of PDGFRB to MPRIP, CPSF6, and GOLGB1in three patients with eosinophilia-associated myeloproliferative neoplasms. Genes, Chromosomes and Cancer, 54 (12), 762-770. (doi:10.1002/gcc.22287).

Record type: Article

Abstract

In eosinophilia-associated myeloproliferative neoplasms (MPN-eo), constitutive activation of protein tyrosine kinases (TK) as consequence of translocations, inversions, or insertions and creation of TK fusion genes is recurrently observed. The most commonly involved TK and their potential TK inhibitors include PDGFRA at 4q12 or PDGFRB at 5q33 (imatinib), FGFR1 at 8p11 (ponatinib), and JAK2 at 9p24 (ruxolitinib). We here report the identification of three new PDGFRB fusion genes in three male MPN-eo patients: MPRIP-PDGFRB in a case with t(5;17)(q33;p11), CPSF6-PDGFRB in a case with t(5;12)(q33;q15), and GOLGB1-PDGFRB in a case with t(3;5)(q13;q33). The fusion proteins identified by 5?-rapid amplification of cDNA ends polymerase chain reaction (PCR) or DNA-based long distance inverse PCR are predicted to contain the TK domain of PDGFRB. The partner genes contain domains like coiled-coil structures, which are likely to cause dimerization and activation of the TK. In all patients, imatinib induced rapid and durable complete remissions.

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More information

Accepted/In Press date: 10 September 2015
Published date: December 2015
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 381563
URI: http://eprints.soton.ac.uk/id/eprint/381563
ISSN: 1098-2264
PURE UUID: c22ec3ee-f240-4168-b70a-a603b39763fc
ORCID for Nicholas C. P. Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 08 Oct 2015 11:15
Last modified: 09 Jan 2022 03:08

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Contributors

Author: Nicole Naumann
Author: Juliana Schwaab
Author: Georgia Metzgeroth
Author: Mohamad Jawhar
Author: Claudia Haferlach
Author: Gudrun Göhring
Author: Brigitte Schlegelberger
Author: Christian T. Dietz
Author: Susanne Schnittger
Author: Sina Lotfi
Author: Michael Gärtner
Author: Tu-Anh Dang
Author: Wolf-Karsten Hofmann
Author: Andreas Reiter
Author: Alice Fabarius

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