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A novel t(1;9)(p36;p24.1) JAK2 translocation and review of the literature

A novel t(1;9)(p36;p24.1) JAK2 translocation and review of the literature
A novel t(1;9)(p36;p24.1) JAK2 translocation and review of the literature
The JAK2V617F point mutation has been implicated in the pathogenesis of the vast majority of myeloproliferative neoplasms (MPNs), but translocations involving JAK2 have increasingly been identified in patients with JAK2V617F-negativeMPNs. Here, we present a case of a patient diagnosed with JAK2V617F-negativepolycythemia vera (PV) that transformed to the MPN-blast phase. Cytogenetic and FISH analysis revealed a novel translocation of t(1;9)(p36;p24.1), causing a PEX14-JAK2 gene fusion product. The t(1;9)(p36;p24.1) represents a new addition to the list of known translocations involving JAK2that have been identified in hematologic malignancies. Although the prognostic and treatment implications of JAK2 translocations in MPNs have not been elucidated, positive outcomes have been described in case reports describing the use of JAK inhibitors in these patients. Further research into the role of JAK2 translocations in the pathogenesis and outcomes of hematologic malignancies is warranted.
0001-5792
1-8
Levavi, Hannah
7ad29ee4-2f97-4953-a602-05be577c2be8
Tripodi, Joseph
612d86b9-c5f4-49df-ae48-28f64639f297
Marcellino, Bridget
3543b4c2-e193-4ca0-9625-b163829d7be1
Mascarenhas, John
24678e3b-3c8c-479a-ac75-197dacc45b8c
Jones, Amy V
3e75587f-611d-47f3-aa52-e4948b368e3a
Cross, Nicholas
f87650da-b908-4a34-b31b-d62c5f186fe4
Gruenstein, Diana
b8dcfce4-b0c6-4360-b92c-ebd25d8fe36c
Najfeld, Vesna
284320e2-2613-4266-b268-5646d1ab856a
Levavi, Hannah
7ad29ee4-2f97-4953-a602-05be577c2be8
Tripodi, Joseph
612d86b9-c5f4-49df-ae48-28f64639f297
Marcellino, Bridget
3543b4c2-e193-4ca0-9625-b163829d7be1
Mascarenhas, John
24678e3b-3c8c-479a-ac75-197dacc45b8c
Jones, Amy V
3e75587f-611d-47f3-aa52-e4948b368e3a
Cross, Nicholas
f87650da-b908-4a34-b31b-d62c5f186fe4
Gruenstein, Diana
b8dcfce4-b0c6-4360-b92c-ebd25d8fe36c
Najfeld, Vesna
284320e2-2613-4266-b268-5646d1ab856a

Levavi, Hannah, Tripodi, Joseph, Marcellino, Bridget, Mascarenhas, John, Jones, Amy V, Cross, Nicholas, Gruenstein, Diana and Najfeld, Vesna (2019) A novel t(1;9)(p36;p24.1) JAK2 translocation and review of the literature. Acta Haematologica, 1-8. (doi:10.1159/000498945).

Record type: Article

Abstract

The JAK2V617F point mutation has been implicated in the pathogenesis of the vast majority of myeloproliferative neoplasms (MPNs), but translocations involving JAK2 have increasingly been identified in patients with JAK2V617F-negativeMPNs. Here, we present a case of a patient diagnosed with JAK2V617F-negativepolycythemia vera (PV) that transformed to the MPN-blast phase. Cytogenetic and FISH analysis revealed a novel translocation of t(1;9)(p36;p24.1), causing a PEX14-JAK2 gene fusion product. The t(1;9)(p36;p24.1) represents a new addition to the list of known translocations involving JAK2that have been identified in hematologic malignancies. Although the prognostic and treatment implications of JAK2 translocations in MPNs have not been elucidated, positive outcomes have been described in case reports describing the use of JAK inhibitors in these patients. Further research into the role of JAK2 translocations in the pathogenesis and outcomes of hematologic malignancies is warranted.

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Accepted/In Press date: 10 February 2019
e-pub ahead of print date: 7 May 2019

Identifiers

Local EPrints ID: 430200
URI: https://eprints.soton.ac.uk/id/eprint/430200
ISSN: 0001-5792
PURE UUID: 31c1d94d-9d9c-4165-8f2f-1be9ecaa887c
ORCID for Nicholas Cross: ORCID iD orcid.org/0000-0001-5481-2555

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Date deposited: 16 Apr 2019 16:30
Last modified: 25 May 2019 00:35

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Contributors

Author: Hannah Levavi
Author: Joseph Tripodi
Author: Bridget Marcellino
Author: John Mascarenhas
Author: Amy V Jones
Author: Nicholas Cross ORCID iD
Author: Diana Gruenstein
Author: Vesna Najfeld

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