Journal ArticleDOI
Clinical profile of homozygous JAK2 617V>F mutation in patients with polycythemia vera or essential thrombocythemia.
Alessandro M. Vannucchi,Elisabetta Antonioli,Paola Guglielmelli,Alessandro Rambaldi,Giovanni Barosi,Roberto Marchioli,Rosa Maria Marfisi,Guido Finazzi,Vittoria Guerini,Fabrizio Fabris,Maria Luigia Randi,Valerio De Stefano,Sabrina Caberlon,Agostino Tafuri,Marco Ruggeri,Giorgina Specchia,Vincenzo Liso,Edoardo Rossi,Enrico Pogliani,Luigi Gugliotta,Alberto Bosi,Tiziano Barbui +21 more
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TLDR
It is concluded that JAK2 617V>F homozygosity identifies PV or ET patients with a more symptomatic myeloproliferative disorder and is associated with a higher risk of major cardiovascular events in patients with ET.About:
This article is published in Blood.The article was published on 2007-08-01. It has received 436 citations till now. The article focuses on the topics: Polycythemia vera & Essential thrombocythemia.read more
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Journal ArticleDOI
Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2 , MPL , TET2 , ASXL1 , CBL , IDH and IKZF1
TL;DR: The functional consequences of MPN-associated mutations including unregulated JAK-STAT signaling, epigenetic modulation of transcription and abnormal accumulation of oncoproteins are not clear as to whether and how these abnormalities contribute to disease initiation, clonal evolution or blastic transformation.
Journal ArticleDOI
Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice
Ralph Tiedt,Hui Hao-Shen,Marta Anna Sobas,Marta Anna Sobas,Renate Looser,Stephan Dirnhofer,Jürg Schwaller,Radek C. Skoda +7 more
TL;DR: Higher levels of JAK2-V617F in mouse bone marrow by retroviral transduction caused a PV-like phenotype without thrombocytosis, consistent with the hypothesis that the ratio of mutant to wild-type JAK1 is critical for the phenotypic manifestation.
Journal ArticleDOI
MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.
Philip A. Beer,Peter J. Campbell,Linda M. Scott,Anthony J. Bench,Wendy N. Erber,David Bareford,Bridget S. Wilkins,John T. Reilly,Hans Carl Hasselbalch,Richard Bowman,Keith Wheatley,Georgina Buck,Claire N. Harrison,Anthony R. Green +13 more
TL;DR: It is demonstrated that MPL mutations outside exon 10 are uncommon in platelet cDNA and 4 different exon10 mutations in granulocyte DNA from a retrospective cohort of 200 patients with ET or IMF are identified.
Journal Article
Ratio of mutant JAK2-V617F to wild-type Jak2 determines the MPD phenotypes in transgenic mice. Commentary
Ross L. Levine,Ralph Tiedt,Hui Hao-Shen,Marta Anna Sobas,Renate Looser,Stephan Dirnhofer,Jürg Schwaller,Radek C. Skoda +7 more
TL;DR: In this article, the authors generated JAK2-V617F transgenic mice with the sequences encoding the kinase domain placed in the inverse orientation and flanked by antiparallel loxP sites.
Journal ArticleDOI
Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia
Giada Rotunno,Carmela Mannarelli,Paola Guglielmelli,Annalisa Pacilli,Alessandro Pancrazzi,Lisa Pieri,Tiziana Fanelli,Alberto Bosi,Alessandro M. Vannucchi +8 more
TL;DR: Genotyping for CALR mutations represents a novel useful tool for establishing a clonal myeloproliferative disorder in JAK2 and MPL wt patients with thrombocytosis and may have prognostic and therapeutic relevance.
References
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Journal ArticleDOI
A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
Robert Kralovics,Francesco Passamonti,Andreas Buser,Soon Siong Teo,Ralph Tiedt,Jakob Passweg,André Tichelli,Mario Cazzola,Radek C. Skoda +8 more
TL;DR: Genetic evidence and in vitro functional studies indicate that V617F gives hematopoietic precursors proliferative and survival advantages and a high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.
Journal ArticleDOI
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
E. Joanna Baxter,Linda M. Scott,Peter J. Campbell,Clare L. East,Nasios Fourouclas,Soheila Swanton,George S. Vassiliou,Anthony J. Bench,Elaine M. Boyd,Natasha Curtin,Michael A. Scott,Wendy N. Erber,Anthony R. Green,Anthony R. Green +13 more
TL;DR: A single acquired mutation of JAK2 was noted in more than half of patients with a myeloproliferative disorder and its presence in all erythropoietin-independent erythroid colonies demonstrates a link with growth factor hypersensitivity, a key biological feature of these disorders.
Journal ArticleDOI
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
Chloé James,Valérie Ugo,Jean-Pierre Le Couedic,Judith Staerk,François Delhommeau,Catherine Lacout,Loïc Garçon,Hana Raslova,Roland Berger,Annelise Bennaceur-Griscelli,Jean-Luc Villeval,Stefan N. Constantinescu,Nicole Casadevall,William Vainchenker +13 more
TL;DR: A clonal and recurrent mutation in the JH2 pseudo-kinase domain of the Janus kinase 2 (JAK2) gene in most (> 80%) polycythaemia vera patients leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity and induces erythrocytosis in a mouse model.
Journal ArticleDOI
Proposed Revised Criteria for the Classification of Acute Myeloid Leukemia: A Report of the French-American-British Cooperative Group
John M. Bennett,Daniel Catovsky,Marie T. Daniel,George Flandrin,David A. G. Galton,Harvey R. Gralnick,C. Sultan +6 more
TL;DR: The first proposals for the morphologic classification of the acute leukemias by the French-American-British (FAB) group were put forward in the hope that they might serve as a basis for future studies.
Journal ArticleDOI
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
Ross L. Levine,Ross L. Levine,Martha Wadleigh,Jan Cools,Benjamin L. Ebert,Benjamin L. Ebert,Gerlinde Wernig,Brian J. P. Huntly,Titus J. Boggon,Iwona Wlodarska,Jennifer J. Clark,Sandra A. Moore,Jennifer Adelsperger,Sumin Koo,Jeffrey C. Lee,Stacey Gabriel,Thomas Mercher,Alan D. D'Andrea,Stefan Fröhling,Konstanze Döhner,Peter Marynen,Peter Vandenberghe,Ruben A. Mesa,Ayalew Tefferi,James D. Griffin,Michael J. Eck,William R. Sellers,William R. Sellers,Matthew Meyerson,Matthew Meyerson,Todd R. Golub,Todd R. Golub,Todd R. Golub,Stephanie J. Lee,D. Gary Gilliland,D. Gary Gilliland,D. Gary Gilliland +36 more
TL;DR: High-throughput DNA resequencing identified a recurrent somatic missense mutation JAK2V617F in granulocyte DNA samples of 121 of 164 PV patients, of which 41 had homozygous and 80 had heterozygous mutations.
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Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
Ross L. Levine,Ross L. Levine,Martha Wadleigh,Jan Cools,Benjamin L. Ebert,Benjamin L. Ebert,Gerlinde Wernig,Brian J. P. Huntly,Titus J. Boggon,Iwona Wlodarska,Jennifer J. Clark,Sandra A. Moore,Jennifer Adelsperger,Sumin Koo,Jeffrey C. Lee,Stacey Gabriel,Thomas Mercher,Alan D. D'Andrea,Stefan Fröhling,Konstanze Döhner,Peter Marynen,Peter Vandenberghe,Ruben A. Mesa,Ayalew Tefferi,James D. Griffin,Michael J. Eck,William R. Sellers,William R. Sellers,Matthew Meyerson,Matthew Meyerson,Todd R. Golub,Todd R. Golub,Todd R. Golub,Stephanie J. Lee,D. Gary Gilliland,D. Gary Gilliland,D. Gary Gilliland +36 more