نتایج جستجو برای: jak2v617f

تعداد نتایج: 776  

2012
Hajime Akada Saeko Akada Ajeet Gajra Alicia Bair Stephen Graziano Robert E. Hutchison Golam Mohi

The discovery of the JAK2V617F mutation in most patients with Ph-negative myeloproliferative neoplasms has led to the development of JAK2 kinase inhibitors. However, JAK2 inhibitor therapy has shown limited efficacy and dose-limiting hematopoietic toxicities in clinical trials. In the present study, we describe the effects of vorinostat, a small-molecule inhibitor of histone deacetylase, agains...

2012
KAZUHIKO IKEDA KAZUEI OGAWA YASUCHIKA TAKEISHI

Philadelphia chromosome-negative myeloproliferative neoplasms (MPN), which include polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are characterized by clonal proliferative hematopoiesis with increased blood cell count. Clonal expansion mechanisms in MPN and related disorders such as myelodysplastic syndromes (MDS) remain to be elucidated. Although mutations in the JAK2...

2017
Margherita Perricone Francesca Palandri Emanuela Ottaviani Mario Angelini Laura Bagli Enrica Bellesia Meris Donati Donato Gemmati Patrizia Zucchini Stefania Mancini Valentina Marchica Serena Trubini Giovanna De Matteis Silvia Di Zacomo Mosè Favarato Annamaria Fioroni Caterina Bolzonella Giorgia Maccari Filippo Navaglia Daniela Gatti Luisa Toffolatti Linda Orlandi Vèronique Laloux Marco Manfrini Piero Galieni Barbara Giannini Alessia Tieghi Sara Barulli Maria Luisa Serino Monica Maccaferri Anna Rita Scortechini Nicola Giuliani Daniele Vallisa Massimiliano Bonifacio Patrizia Accorsi Cristina Salbe Vinicio Fazio Milena Gusella Eleonora Toffoletti Marzia Salvucci Mirija Svaldi Filippo Gherlinzoni Francesca Cassavia Francesco Orsini Giovanni Martinelli

To date, a plenty of techniques for the detection of JAK2V617F is used over different laboratories, with substantial differences in specificity and sensitivity. Therefore, to provide reliable and comparable results, the standardization of molecular techniques is mandatory.A network of 19 centers was established to 1) evaluate the inter- and intra-laboratory variability in JAK2V617F quantificati...

2014
Kaiyao Shi Wanke Zhao Yun Chen Wanting Tina Ho Ping Yang Zhizhuang Joe Zhao

BACKGROUND Myeloproliferative neoplasms (MPNs) are blood malignancies manifested in increased production of red blood cells, white blood cells, and/or platelets. A major molecular lesion associated with the diseases is JAK2V617F, an activation mutation form of tyrosine kinase JAK2. Cardiovascular events represent the leading cause of morbidity and mortality associated MPNs, but the underlying m...

Journal: :Cancer cell 2010
Edwin Chen Philip A Beer Anna L Godfrey Christina A Ortmann Juan Li Ana P Costa-Pereira Catherine E Ingle Emmanouil T Dermitzakis Peter J Campbell Anthony R Green

The JAK2V617F mutation is associated with distinct myeloproliferative neoplasms, including polycythemia vera (PV) and essential thrombocythemia (ET), but it remains unclear how it generates disparate disorders. By comparing clonally-derived mutant and wild-type cells from individual patients, we demonstrate that the transcriptional consequences of JAK2V617F are subtle, and that JAK2V617F-hetero...

2013
Francisca Ferrer-Marín Beatriz Bellosillo Luz Martínez-Avilés Gloria Soler Pablo Carbonell Ginés Luengo-Gil Eva Caparrós José M Torregrosa Carlos Besses Vicente Vicente

We have characterized the molecular changes underlying the transformation of a JAK2V617F+-myelofibrosis with trisomy 8, into a JAK2V617F-negative leukemia. Leukemic clone did not carry JAK2V617F mutation, but showed ASXL1 mutation (R693X). This mutation was identified in a low percentage at diagnosis by next-generation sequencing. Using this technology in serial specimens during the follow-up, ...

2013
Benoit de Renzis Veronique Mansat-De Mas Eric Wattel Odile Beyne-Rauzy Laurent Knoops Aurélie Cabrespine Zahia Azgui Lionel Ades Jean-Jacques Kiladjian Pierre Fenaux

While in RARS-T, JAK2V617F mutation is common and associated with good prognosis, the clinical and prognostic impact of this mutation in other MDS is unknown. We collected data from 132 non-RARS-T MDS with known JAK2V617F mutation status. JAK2V617F mutation was significantly correlated with lower progression to AML (p<.0011) and better overall survival (OS, p=.011). OS difference persisted afte...

Journal: :iranian journal of pediatric hematology and oncology 0
a ghotaslou ms.c student , department of hematology,school of allied medical sciences , tehran university of medical sciences, tehra f nadali associate professor, departement of hematology, school of allied medical sciences , tehran university of medical scienceسازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (tehran university of medical sciences) a ghasemi سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (tehran university of medical sciences) b chahardouli - assistant professor, hematology-oncology and stem cell transplantation research center, tehran university of medical s s abbasian سازمان اصلی تایید شده: دانشگاه علوم پزشکی تهران (tehran university of medical sciences) s rostami - assistant professor, hematology-oncology and stem cell transplantation research center, tehran university of medical s

background myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. in addition to jak2v617f mutation, several mutations in the c-mpl gene were described in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. the aim of present study was to investigate the frequ...

Journal: :Blood 2012
Anna L Godfrey Edwin Chen Francesca Pagano Christina A Ortmann Yvonne Silber Beatriz Bellosillo Paola Guglielmelli Claire N Harrison John T Reilly Frank Stegelmann Fontanet Bijou Eric Lippert Mary F McMullin Jean-Michel Boiron Konstanze Döhner Alessandro M Vannucchi Carlos Besses Peter J Campbell Anthony R Green

Subclones homozygous for JAK2V617F are more common in polycythemia vera (PV) than essential thrombocythemia (ET), but their prevalence and significance remain unclear. The JAK2 mutation status of 6495 BFU-E, grown in low erythropoietin conditions, was determined in 77 patients with PV or ET. Homozygous-mutant colonies were common in patients with JAK2V617F-positive PV and were surprisingly prev...

Journal: :Haematologica 2014
Camilla Nielsen Stig E Bojesen Børge G Nordestgaard Klaus F Kofoed Henrik S Birgens

Clinical significance of the JAK2V617F mutation in patients with a myeloproliferative neoplasm has been the target of intensive research in recent years. However, there is considerably uncertainty about prognosis in JAK2V617F positive individuals without overt signs of myeloproliferative disease. In this study, we tested the hypothesis that increased JAK2V617F somatic mutation burden is associa...

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