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JAK2 V617F

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https://www.readbyqxmd.com/read/28228434/sagittal-sinus-thrombosis-in-jak2-v617f-mutation-without-overt-myeloproliferative-disorder
#1
Prashant Ramesh Bhand, Supriya Ramesh Karde, Nagabathula Ramesh
We describe a case of a man aged 41 years who presented with a history of generalised headaches for 1 week and an acute episode of tonic-clonic seizures. He had no history of medical illness, was non-smoker, with an extensive family history of haematological disorders. Initial CT brain with contrast did not show any abnormalities in brain parenchyma. X-ray and CT right shoulder showed shoulder dislocation secondary to trauma associated with seizure prior to hospital admission. Subsequently, MRA and MRV brain was arranged, which revealed extensive expansible occlusive filling defect dominating the middle of superior sagittal sinus with left frontal cortical and subcortical acute oedema...
February 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28219223/-jak2-v617f-positive-mutation-transformed-to-calreticulin-mutation-in-one-patient-with-essential-thrombocythemia
#2
S Y Wang, L J Zhang, Y X Liu, G M Liu, J Z Fu, F Y Wang, X L Xie, Z Y Cheng
No abstract text is available yet for this article.
January 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28219221/-the-clinical-characteristics-gene-mutations-and-prognosis-of-chronic-neutrophilic-leukemia
#3
Y J Cui, Q Jiang, J Q Liu, B Li, Z F Xu, T J Qin, Y Zhang, W Y Cai, H L Zhang, L W Fang, L J Pan, N B Hu, S Q Qu, Z J Xiao
Objective: To investigate the clinical manifestation, cytogenetics, gene mutations and prognostic factors of chronic neutrophilic leukemia (CNL) . Methods: 16 CNL cases, according to WHO (2016) -definition, were reviewed retrospectively. Identifications of the CSF3R, ASXL1, SETBP1, CALR and MPL mutations were performed by direct sequencing. JAK2 V617F mutation was detected by AS-PCR. Results: Of the 16 CNL patients, the median age was 64 (43-80) years with a male predominance of 75% (12/16) . The median hemoglobin was 114 (81-154) g/L, with median WBC of 41...
January 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28205126/estimation-of-diagnosis-and-prognosis-in-et-by-assessment-of-calr-and-jak2-v617f-mutations-and-laboratory-findings-a-meta-analysis
#4
REVIEW
N Saki, R Shirzad, F Rahim, A Saki Malehi
BACKGROUND: Essential thrombocythemia (ET) is a benign disease with slow progress in which thrombosis is a cause of mortality. JAK2(V617F) and calreticulin (CALR) are the most frequent mutations in this disease. In this systematic review and meta-analysis, we compared the prevalence of JAK2(V617F) and CALR mutations in ET and examined the incidence of thrombosis and other hematologic indices. METHODS: After choosing MeSH keywords, including essential thrombocythemia, JAK2(V617F), calreticulin, prognosis, and diagnosis, as well as searching Medline/PubMed and Scopus, 12 papers were selected...
February 15, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/28182037/janus-kinase-2-mutations-in-cases-with-bcr-abl-negative-chronic-myeloproliferative-disorders-from-turkey
#5
Ismail Yildiz, Osman Yokuş, Habip Gedik
OBJECTIVE: We aimed to investigate the frequency of Janus kinase 2 (JAK2) mutations in cases with chronic myeloproliferative disorders (CMDs), and the relationship between the presence of JAK2 mutation and leukocytosis and splenomegaly, retrospectively. MATERIALS AND METHODS: Patients, who were diagnosed with BCR-ABL-negative CMDs according to diagnosis criteria of the World Health Organization and followed up at the hematology clinic between 2013 and 2015, were investigated in terms of the frequency of JAK2 mutation in cases with CMDs, and the relationship between the presence of JAK2 mutation and leukocytosis and splenomegaly, retrospectively...
January 2017: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/28168700/progenitor-genotyping-reveals-a-complex-clonal-architecture-in-a-subset-of-calr-mutated-myeloproliferative-neoplasms
#6
Sarah Martin, Casey M Wright, Linda M Scott
The identification of acquired CALR mutations in patients with essential thrombocythaemia (ET) or myelofibrosis (MF) has meant that disease-initiating mutations can now be detected in about 90% of all patients with a myeloproliferative neoplasm (MPN). Here, we show that only those CALR mutations that cause a +1 frameshift, thereby altering the carboxy-terminus of calreticulin, promote cytokine independence in vitro; in-frame deletions were not functional, and are unlikely to be the pathogenetic mutation underlying some MPN cases...
February 7, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28145534/thrombin-generation-a-potentially-useful-biomarker-of-thrombotic-risk-in-philadelphia-negative-myeloproliferative-neoplasms
#7
Romeo-Gabriel Mihaila
The diagnosis of essential thrombocythemia and polycythemia vera is often made during a thrombotic event which can be serious. Philadelphia-negative chronic myeloproliferative neoplasia patients have an increased thrombotic risk. This is assessed using various scoring systems but these are far from ideal and individual risk. The currend trend to personalised medicine requires finding the most useful thrombotic risk biomarker in these patients. Routine tests for coagulation do not take account of both pro- and anti-coagulant factors which is why these tests are not useful in patients with Philadelphia-negative myeloproliferative neoplasms...
January 6, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28119526/rethinking-jak2-inhibition-towards-novel-strategies-of-more-specific-and-versatile-janus-kinase-inhibition
#8
REVIEW
E Leroy, S N Constantinescu
Janus kinases (JAKs) are required for cytokine receptor signaling. Since the discovery of the highly prevalent JAK2 V617F mutation in myeloproliferative neoplasms (MPNs), JAK2 became a prime target for inhibition. Only one approved JAK2 inhibitor exists, with positive, but not curative effects in MPNs, and promising effects in autoimmune diseases and cancer. Based on recent advances in the structural features regulating both normal and mutant JAKs, as well as in small-molecule targeting, we review the current state of JAK2 inhibitor development and present novel avenues of selecting JAK2 inhibitors, with broad and narrow specificities and extend these approaches to other JAKs...
January 25, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28096537/jak2-v617f-activates-%C3%AE-1-integrin-mediated-adhesion-of-granulocytes-to-vascular-cell-adhesion-molecule-1-vcam1
#9
N Gupta, B Edelmann, T M Schnoeder, F C Saalfeld, D Wolleschak, S Kliche, B Schraven, F H Heidel, T Fischer
Leukemia accepted article preview online, 18 January 2017. doi:10.1038/leu.2017.26.
January 18, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28074070/gain-of-function-in-jak2-v617f-positive-t-cells
#10
G Nishanth, D Wolleschak, C Fahldieck, T Fischer, A Mullally, F Perner, T M Schnöder, S Just, F H Heidel, D Schlüter
Leukemia accepted article preview online, 11 January 2017. doi:10.1038/leu.2017.6.
January 11, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28068330/loss-of-p53-induces-leukemic-transformation-in-a-murine-model-of-jak2-v617f-driven-polycythemia-vera
#11
T Tsuruta-Kishino, J Koya, K Kataoka, K Narukawa, Y Sumitomo, H Kobayashi, T Sato, M Kurokawa
As leukemic transformation of myeloproliferative neoplasms (MPNs) worsens the clinical outcome, reducing the inherent risk of the critical event in MPN cases could be beneficial. Among genetic alterations concerning the transformation, the frequent one is TP53 mutation. Here we show that retroviral overexpression of Jak2 V617F mutant into wild-type p53 murine bone marrow cells induced polycythemia vera (PV) in the recipient mice, whereas Jak2 V617F-transduced p53-null mice developed lethal leukemia after the preceding PV phase...
January 9, 2017: Oncogene
https://www.readbyqxmd.com/read/28057939/activating-jak2-mutants-reveal-cytokine-receptor-coupling-differences-that-impact-outcomes-in-myeloproliferative-neoplasm
#12
H Yao, Y Ma, Z Hong, L Zhao, S A Monaghan, M-C Hu, Lj-S Huang
Janus tyrosine kinase 2 (JAK2) mediates downstream signaling of cytokine receptors in all hematological lineages, yet constitutively active JAK2 mutants are able to drive selective expansion of particular lineage(s) in myeloproliferative neoplasm (MPN). The molecular basis of lineage specificity is unclear. Here we show that three activating JAK2 mutants with similar kinase activities in vitro elicit distinctive MPN phenotypes in mice by differentially expanding erythroid vs. granulocytic precursors. Molecularly, this reflects the differential binding of JAK2 mutants to cytokine receptors EpoR and GCSFR in the erythroid vs granulocytic lineage and the creation of unique receptor/JAK2 complexes that generate qualitatively distinct downstream signals...
January 6, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28057739/aberrant-let7a-hmga2-signaling-activity-with-unique-clinical-phenotype-in-jak2-mutated-myeloproliferative-neoplasms
#13
Chih-Cheng Chen, Jie-Yu You, Jrhau Lung, Cih-En Huang, Yi-Yang Chen, Yu-Wei Leu, Hsing-Ying Ho, Chian-Pei Li, Chang-Hsien Lu, Kuan-Der Lee, Chia-Chen Hsu, Jyh-Pyng Gau
High mobility group AT-hook 2 (HMGA2) is an architectural transcriptional factor that is negatively regulated by Let-7 microRNA through binding to its 3-untranslated region (3-UTR). Transgenic mice expressing HMGA2 with a truncation of its 3-UTR has been shown to exhibit a myeloproliferative phenotype. To decipher the Let-7-HMGA2 axis in myeloproliferative neoplasms (MPN), we employed an in vitro model supplemented with clinical correlation. Ba/F3 cells with inducible JAK2V617F expression (Ton.JAK2.V617F cells) showed up-regulation of HMGA2 with concurrent let-7a repression...
January 5, 2017: Haematologica
https://www.readbyqxmd.com/read/28038963/phosphorylated-cis-suppresses-the-epo-or-jak2-v617f-mutant-triggered-cell-proliferation-through-binding-to-epor
#14
Megumi Funakoshi-Tago, Takuro Moriwaki, Fumihito Ueda, Hiroomi Tamura, Tadashi Kasahara, Kenji Tago
The JAK2 V617F mutant-mediated aberrant signaling pathway is a hallmark of myeloproliferative neoplasms (MPNs). Although cytokine-inducible Src homology 2 protein (CIS) and suppressors of cytokine signaling (SOCS) are negative regulators of the JAK-STAT pathway, the functional role of CIS/SOCS family members in the JAK2 V617F mutant-induced oncogenic signaling pathway has not yet been elucidated. In this study, we found that the expression of CIS and SOCS1 was induced through the activation of signal transducer and activator of transcription 5 (STAT5) in not only the cells stimulated with Epo or IL-3 but also the cells transformed by the JAK2 V617F mutant...
February 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28008177/mass-cytometry-analysis-reveals-hyperactive-nf-kappa-b-signaling-in-myelofibrosis-and-secondary-acute-myeloid-leukemia
#15
D A C Fisher, O Malkova, E K Engle, C A Miner, M C Fulbright, G K Behbehani, T B Collins, S Bandyopadhyay, A Zhou, G P Nolan, S T Oh
Myeloproliferative neoplasms (MPNs) feature a malignant clone containing the JAK2 V617F mutation, or another mutation causing dysregulated JAK2 kinase activity. The multiple disease phenotypes of MPNs, and their tendency to transform phenotypically, suggest pathophysiologic heterogeneities beyond a common phenomenon of JAK2 hyperactivation. JAK2 has the potential to activate multiple other signaling molecules, either directly through downstream effectors, or indirectly through induction of target gene expression...
February 3, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27998978/three-tyrosine-residues-in-the-erythropoietin-receptor-are-essential-for-janus-kinase-2-v617f-mutant-induced-tumorigenesis
#16
Fumihito Ueda, Kenji Tago, Hiroomi Tamura, Megumi Funakoshi-Tago
The erythropoietin receptor (EpoR) regulates development of blood cells, and its full activation normally requires the cytokine erythropoietin (Epo). In the case of myeloproliferative neoplasms (MPN), Epo-independent signaling through EpoR can be caused by a point mutation, V617F, in the EpoR-interacting tyrosine kinase Janus kinase 2 (JAK2). In cells expressing the JAK2 V617F mutant, eight tyrosine residues in the intracellular domain of EpoR are phosphorylated, but the functional role of these phosphorylations in oncogenic signaling is incompletely understood...
February 3, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27994837/treatment-of-refractory-anemia-with-ring-sideroblasts-associated-with-marked-thrombocytosis-with-lenalidomide-in-a-patient-testing-negative-for-5q-deletion-and-jak2-v617f-and-mpl-w515k-l-mutations
#17
Ryan Keen, Jeremy Pantin, Natasha Savage, Paul M Dainer
Refractory anemia with ring sideroblasts associated with marked thrombocytosis (RARS-T) is a hematologic malignancy that often results in transfusion dependency and a hypercoagulable state. This rare disease currently lacks formal guidelines for treatment; however, various case reports have demonstrated efficacy in the use of lenalidomide. This immunomodulatory drug has shown promise in patients with 5q deletions, with reports of achieving transfusion independence and normalization of platelet counts. Herein we present the case of a 68-year-old African American woman with RARS-T who tested negative for 5q deletion and JAK2 V617F and MPL W515K/L mutations...
November 2, 2016: Hematology Reports
https://www.readbyqxmd.com/read/27990849/investigation-of-t-cell-immunoglobulin-and-mucin-domain-containing-molecule-3-tim-3-polymorphisms-in-essential-thrombocythaemia-et
#18
Fuyan Han, Guanghai Wang, Yuantang Li, Wenjun Tian, Zhenfang Dong, Shiqing Cheng, Yiqing Liu, Teng Qu, Xiaoying Wang, Yong Wang, Bingchang Zhang, Ying Ju
OBJECTIVES: T-cell immunoglobulin- and mucin-domain-containing molecule-3 (TIM-3) is preferentially expressed on terminally differentiated Th1 cells and inhibits their IFN-γ production. It has been reported that chronic inflammation may be an important driving force for myeloproliferative neoplasms (MPNs). Therefore, we hypothesized that as an important inflammation regulator, TIM-3 may be involved in essential thrombocythaemia (ET). The goal of this study was to investigate whether the -1516G > T, -574G > T and +4259T > G single-nucleotide polymorphisms (SNPs) within the TIM-3 gene contribute to the genetic susceptibility of individuals to ET...
December 17, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27984634/approach-to-patients-with-essential-thrombocythaemia-and-very-high-platelet-counts-what-is-the-evidence-for-treatment
#19
REVIEW
Lorenzo Falchi, Prithviraj Bose, Kate J Newberry, Srdan Verstovsek
Treatment of essential thrombocythaemia (ET) is directed at decreasing the risk of complications of the disease, including arterial and venous thrombosis and bleeding episodes. Established risk factors for vascular events in patients with ET include advanced age (>60 years) and prior history of thrombosis or haemorrhage. The role, if any, of other potential risk factors, including cardiovascular risk factors, leucocytosis, high haematocrit, and JAK2 V617F has been analysed in multiple studies. The impact of thrombocytosis on the risk of vascular events has also been investigated...
February 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/27956534/a-polycythemia-vera-jak2-mutation-masquerading-as-a-duodenal-cancer-mutation
#20
Justin Lee, Jennifer Axilbund, W Brian Dalton, Daniel Laheru, Stanley Watkins, David Chu, Karen Cravero, Berry Button, Kelly Kyker-Snowman, Ian Waters, Christopher D Gocke, Josh Lauring, Ben Ho Park
Next-generation sequencing (NGS) is increasingly being used in cancer care to identify both somatic tumor driver mutations that can be targeted for therapy, and heritable mutations in the germline associated with increased cancer risk. This report presents a case of a JAK2 V617F mutation falsely identified as a duodenal cancer mutation via NGS. The patient was found to have a history of polycythemia vera, a disorder with a high incidence of JAK2 somatic mutations. Buccal cell DNA showed heterozygosity for the mutation, suggesting that it was potentially germline...
December 2016: Journal of the National Comprehensive Cancer Network: JNCCN
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