JAK2 exon 12 mutations are associated with more marked and isolated erythrocytosis than JAK2V617F. We analysed expression profiles of JAK2exon 12-mutant and wild-type erythroid colonies from patients with polycythemia vera (PV). Exon 12 mutations were associated with interferon- target gene upregulation, STAT1 activation and additional gene expression changes that were quantitatively and qualitatively similar to those in JAK2V617F-heterozygous cells from essential thrombocythemia (ET) patients. These results demonstrate that JAK2 exon 12-mutated PV does not reflect attenuated STAT1 signalling, and that transcriptional consequences of JAK2 mutations are remarkably similar in JAK2 exon 12-mutated PV and JAK2V617F -positive ET

STAT1 activation in association with JAK2 exon 12 mutations / Godfrey, Anna L; Chen, Edwin; Massie, Charles E; Silber, Yvonne; Pagano, Francesca; Bellosillo, Beatriz; Guglielmelli, Paola; Harrison, Claire N; Reilly, John T; Stegelmann, Frank; Bijou, Fontanet; Lippert, Eric; Boiron, Jean-Michel; Döhner, Konstanze; Vannucchi, Alessandro M; Besses, Carlos; Green, Anthony R. - In: HAEMATOLOGICA. - ISSN 0390-6078. - ELETTRONICO. - 101:(2015), pp. 15-19. [10.3324/haematol.2015.128546]

STAT1 activation in association with JAK2 exon 12 mutations

GUGLIELMELLI, PAOLA;VANNUCCHI, ALESSANDRO MARIA;
2015

Abstract

JAK2 exon 12 mutations are associated with more marked and isolated erythrocytosis than JAK2V617F. We analysed expression profiles of JAK2exon 12-mutant and wild-type erythroid colonies from patients with polycythemia vera (PV). Exon 12 mutations were associated with interferon- target gene upregulation, STAT1 activation and additional gene expression changes that were quantitatively and qualitatively similar to those in JAK2V617F-heterozygous cells from essential thrombocythemia (ET) patients. These results demonstrate that JAK2 exon 12-mutated PV does not reflect attenuated STAT1 signalling, and that transcriptional consequences of JAK2 mutations are remarkably similar in JAK2 exon 12-mutated PV and JAK2V617F -positive ET
2015
101
15
19
Goal 3: Good health and well-being for people
Godfrey, Anna L; Chen, Edwin; Massie, Charles E; Silber, Yvonne; Pagano, Francesca; Bellosillo, Beatriz; Guglielmelli, Paola; Harrison, Claire N; Reilly, John T; Stegelmann, Frank; Bijou, Fontanet; Lippert, Eric; Boiron, Jean-Michel; Döhner, Konstanze; Vannucchi, Alessandro M; Besses, Carlos; Green, Anthony R
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1015484
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