Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies

Most BCR-ABL1-negative myeloproliferative neoplasms (MPN) carry an activating JAK2 mutation. Approximately 96% of patients with polycythemia vera (PV) harbors the V617F mutation in JAK2 exon 14, whereas the minority of JAK2 (V617F)-negative subjects shows several mutations in exon 12. Other mutation...

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Main Authors:	Passamonti, Francesco, Maffioli, Margherita, Caramazza, Domenica, Cazzola, Mario
Format:	Online
Language:	English
Published:	Impact Journals LLC 2011
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3248205/

id	pubmed-3248205
recordtype	oai_dc
spelling	pubmed-32482052012-01-18 Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies Passamonti, Francesco Maffioli, Margherita Caramazza, Domenica Cazzola, Mario Research Perspectives Most BCR-ABL1-negative myeloproliferative neoplasms (MPN) carry an activating JAK2 mutation. Approximately 96% of patients with polycythemia vera (PV) harbors the V617F mutation in JAK2 exon 14, whereas the minority of JAK2 (V617F)-negative subjects shows several mutations in exon 12. Other mutation events as MPL, TET2, LNK, EZH2 have been described in chronic phase, while NF1, IDH1, IDH2, ASX1, CBL and Ikaros in blast phase of MPN. The specific pathogenic implication of these mutations is under investigation, but they may have a role in refinement of diagnostic criteria and in development of new prognostic models. Several trials with targeted therapy (JAK inhibitors) are ongoing mostly involving patients with PMF, post-PV MF and post-essential thrombocythemia (ET) MF. Treatment with ruxolitinib and TG101348 has shown clinically significant benefits, particularly in improvement of splenomegaly and constitutional symptoms in MF patients. On the other hand, JAK inhibitors have not thus far shown disease-modifying activity therefore any other deduction on these new drugs seems premature. Impact Journals LLC 2011-06-05 /pmc/articles/PMC3248205/ /pubmed/21646683 Text en Copyright: © 2011 Passamonti et al. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Passamonti, Francesco Maffioli, Margherita Caramazza, Domenica Cazzola, Mario
spellingShingle	Passamonti, Francesco Maffioli, Margherita Caramazza, Domenica Cazzola, Mario Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies
author_facet	Passamonti, Francesco Maffioli, Margherita Caramazza, Domenica Cazzola, Mario
author_sort	Passamonti, Francesco
title	Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies
title_short	Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies
title_full	Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies
title_fullStr	Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies
title_full_unstemmed	Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies
title_sort	myeloproliferative neoplasms: from jak2 mutations discovery to jak2 inhibitor therapies
description	Most BCR-ABL1-negative myeloproliferative neoplasms (MPN) carry an activating JAK2 mutation. Approximately 96% of patients with polycythemia vera (PV) harbors the V617F mutation in JAK2 exon 14, whereas the minority of JAK2 (V617F)-negative subjects shows several mutations in exon 12. Other mutation events as MPL, TET2, LNK, EZH2 have been described in chronic phase, while NF1, IDH1, IDH2, ASX1, CBL and Ikaros in blast phase of MPN. The specific pathogenic implication of these mutations is under investigation, but they may have a role in refinement of diagnostic criteria and in development of new prognostic models. Several trials with targeted therapy (JAK inhibitors) are ongoing mostly involving patients with PMF, post-PV MF and post-essential thrombocythemia (ET) MF. Treatment with ruxolitinib and TG101348 has shown clinically significant benefits, particularly in improvement of splenomegaly and constitutional symptoms in MF patients. On the other hand, JAK inhibitors have not thus far shown disease-modifying activity therefore any other deduction on these new drugs seems premature.
publisher	Impact Journals LLC
publishDate	2011
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3248205/
_version_	1611497305366593536

Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies

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