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JAK2 V617F

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https://www.readbyqxmd.com/read/28446312/-clinical-characteristics-and-gene-mutations-of-gilbert-syndrome-complicated-with-myeloproliferative-neoplasm
#1
Xing-Xin Li, Jun Shi, Zhen-Dong Huang, Ying-Qi Shao, Neng Nie, Jing Zhang, Mei-Li Ge, Jin-Bo Huang, Yi-Zhou Zheng
OBJECTIVE: To investigate the clinical characteristics and gene mutations of patients with Gilbert syndrome complicated with myeloproliferative neoplasms (MPN). METHODS: Peripheral blood samples from 1 patient with Gilbert syndrome complicated with MPN and his son were collected to analyse all exon mutations of UGT1A1 gene. RESULTS: The patient with leukocytosis, thrombocythemia, mild anemia and positive JAK2/V617F mutation was initially diagnosed as MPN...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28441920/investigational-janus-kinase-inhibitors-in-development-for-myelofibrosis
#2
Prithviraj Bose, Abdallah Abou Zahr, Srdan Verstovsek
INTRODUCTION: Since the discovery of the activating V617F mutation in Janus kinase 2 (JAK2), a number of pharmacologic inhibitors of JAK2 have entered clinical trials for patients with myelofibrosis. However, ruxolitinib, approved in 2011, remains the only one currently available for treatment of myelofibrosis, with many others having been discontinued for toxicity, and considerable uncertainty surrounding the future of those still in development. AREAS COVERED: The available clinical data on pacritinib and momelotinib, the two agents in the most advanced phases of clinical testing in myelofibrosis, are examined in detail...
April 25, 2017: Expert Opinion on Investigational Drugs
https://www.readbyqxmd.com/read/28439222/hemochromatosis-erythrocytosis-and-the-jak2-p-v617f-mutation
#3
EDITORIAL
Stephen E Langabeer
No abstract text is available yet for this article.
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28411309/calreticulin-mutations-in-bulgarian-mpn-patients
#4
Ivan Pavlov, Evgueniy Hadjiev, Tzvetan Alaikov, Sylva Spassova, Angel Stoimenov, Elissaveta Naumova, Velizar Shivarov, Milena Ivanova
Somatic mutations in JAK2, MPL and CALR are recurrently identified in most of the cases with Philadelphia chromosome negative myeloproliferative neoplasms (MPNs). We applied four molecular genetic methods for identification of CALR exon 9 mutations, including high resolution melt (HRM) analysis, Sanger sequencing, semiconductor target genes sequencing and whole exome sequencing. A total of 78 patients with myeloid malignancies were included in the study. We identified 14 CALR exon 9 mutated cases out of 78 studied patients with myeloid malignancies...
April 14, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28406068/clinical-and-hematological-relevance-of-jak2-v617f-and-calr-mutations-in-bcr-abl-negative-et-patients
#5
N Limsuwanachot, B Rerkamnuaychoke, S Chuncharunee, T Pauwilai, R Singdong, P Rujirachaivej, T Chareonsirisuthigul, T Siriboonpiputtana
BACKGROUND: Classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia (ET), and primary myelofibrosis frequently harbor JAK2, MPL, and CALR somatic mutations. METHODS: AS-PCR for JAK2 V617F, pyrosequencing for MPL W515L/K, and PCR-fragment analysis for CALR exon 9 mutations were established to analyze genomic DNA isolated from peripheral blood samples of 58 newly diagnosed ET patients in Thailand. RESULTS: JAK2 V617F was detected in 41 patients (71%) and CALR exon 9 mutation was positive in eight patients (14%), whereas no mutation of MPL W515L/K was observed in this study...
April 13, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28405618/efficacy-of-alk5-inhibition-in-myelofibrosis
#6
Lanzhu Yue, Matthias Bartenstein, Wanke Zhao, Wanting Tina Ho, Ying Han, Cem Murdun, Adam W Mailloux, Ling Zhang, Xuefeng Wang, Anjali Budhathoki, Kith Pradhan, Franck Rapaport, Huaquan Wang, Zonghong Shao, Xiubao Ren, Ulrich Steidl, Ross L Levine, Zhizhuang Joe Zhao, Amit Verma, Pearlie K Epling-Burnette
Myelofibrosis (MF) is a bone marrow disorder characterized by clonal myeloproliferation, aberrant cytokine production, extramedullary hematopoiesis, and bone marrow fibrosis. Although somatic mutations in JAK2, MPL, and CALR have been identified in the pathogenesis of these diseases, inhibitors of the Jak2 pathway have not demonstrated efficacy in ameliorating MF in patients. TGF-β family members are profibrotic cytokines and we observed significant TGF-β1 isoform overexpression in a large cohort of primary MF patient samples...
April 6, 2017: JCI Insight
https://www.readbyqxmd.com/read/28395787/testing-for-thrombophilia-in-mesenteric-venous-thrombosis-retrospective-original-study-and-systematic-review
#7
REVIEW
M Zarrouk, S Salim, J Elf, A Gottsäter, S Acosta
The aim was to perform a local study of risk factors and thrombophilia in mesenteric venous thrombosis (MVT), and to review the literature concerning thrombophilia testing in MVT. Patients hospitalized for surgical or medical treatment of MVT at our center 2000-2015. A systematic review of observational studies was performed. In the local study, the most frequently identified risk factor was Factor V Leiden mutation. The systematic review included 14 original studies. The highest pooled percentage of any inherited thrombophilic factor were: Factor V Leiden mutation 9% (CI 2...
February 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28395559/management-of-myelofibrosis-jak-inhibition-and-beyond
#8
Maximilian Stahl, Amer M Zeidan
Myelofibrosis (MF) is characterized by bone marrow fibrosis with subsequent extramedullary hematopoiesis and abnormal cytokine expression leading to splenomegaly, constitutional symptoms and cytopenias. The discovery of the JAK2 V617F mutation in the majority of MF patients has been followed by significant progress in drug development for MF. Areas covered: In this article, we review advances in the understanding of the underlying disease biology, prognostic assessment and therapeutic modalities for MF. We provide clinical trial evidence behind using the JAK2 inhibitor ruxolitinib, erythropoiesis stimulating agents, androgens, immunomodulatory drugs, interferon, cytoreductive drugs and hypomethylating agents in MF...
April 26, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28365441/the-multi-site-docking-protein-gab1-is-constitutively-phosphorylated-independent-from-its-recruitment-to-the-plasma-membrane-in-jak2-v617f-positive-cells-and-mediates-proliferation-of-human-erythroleukaemia-cells
#9
Hannes Bongartz, Wiebke Hessenkemper, Christian Müller, Melissa Fensky, Johannes Fritsch, Katharina Mandel, Iris Behrmann, Claude Haan, Thomas Fischer, Stephan M Feller, Fred Schaper
The constitutively active Janus kinase 2 mutant Jak2-V617F is responsible for cytokine-independent growth of hematopoietic cells and the development of myeloproliferative neoplasms, such as polycythaemia vera and essential thrombocythaemia. Cells expressing Jak2-V617F exhibit constitutive STAT, MAPK, and PI3K signalling, and constitutive association of the multi-site docking protein Gab1 to PIP3 at the plasma membrane. Here, we demonstrate the crucial role of Gab1 for the proliferation of Jak2-V617F-positive human erythroleukaemia (HEL) cells...
March 30, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28338652/3q26-2-evi1-rearrangement-is-associated-with-poor-prognosis-in-classical-philadelphia-chromosome-negative-myeloproliferative-neoplasms
#10
Zhihong Hu, L Jeffrey Medeiros, Wei Wang, Zi Chen, Guilin Tang, Parsa Hodjat, Su Yang, Lianghua Fang, Yan Li, Srdan Verstovsek, Shimin Hu
Classical Philadelphia chromosome-negative myeloproliferative neoplasms are a group of closely related myeloid disorders with different histologic features and clinical presentations at an early stage, but all later develop into a similar fibrotic stage with variable risk of acute transformation. The significance of 3q26.2/EVI1 rearrangement has been well recognized in acute myeloid leukemia, myelodysplastic syndrome, and chronic myeloid leukemia. However, the clinical importance of 3q26.2/EVI1 rearrangement in classical Philadelphia chromosome-negative myeloproliferative neoplasms is unknown...
March 24, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28332377/hb-heathrow-%C3%AE-103-g5-phe%C3%A2-leu-a-first-report-in-an-asian-patient-with-erythrocytosis
#11
Sang Yong Shin, Hyun Young Kim, Hee Jin Kim, Hoon Gu Kim
Congenital erythrocytosis (CE) is a rare and heterogeneous disease. The high oxygen affinity hemoglobin (Hb) variants are the most common cause of CE. Herein, we report a Korean patient with isolated erythrocytosis. A 25-year-old man was referred to our hospital for evaluation of high Hb level (Hb 20.4 g/dL, hematocrit 58%, reticulocyte count 2.90%, white blood cell count 6.83×10⁹/L, and platelet count 195×10⁹/L). Bone marrow biopsy revealed normocellular marrow without myeloproliferative features. JAK2 (V617F, exon 12), CALR (exon 9), and MPL W515K/L mutations were not detected...
May 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28278708/myelodysplastic-syndrome-with-concomitant-del-5q-and-jak2-v617f-mutation-transformed-to-acute-myeloid-leukemia-with-an-additional-chromosomal-abnormality-after-a-long-term-treatment-with-lenalidomide
#12
https://www.readbyqxmd.com/read/28277287/the-promise-of-janus-kinase-inhibitors-in-the-treatment-of-hematological-malignancies
#13
REVIEW
Emilee Senkevitch, Scott Durum
The Janus kinases (JAK) are a family of kinases that play an essential role in cytokine signaling and are implicated in the pathogenesis of autoimmune diseases and hematological malignancies. As a result, the JAKs have become attractive therapeutic targets. The discovery of a JAK2 point mutation (JAK2 V617F) as the main cause of polycythemia vera lead to the development and FDA approval of a JAK1/2 inhibitor, ruxolitinib, in 2011. This review focuses on the various JAK and associated components aberrations implicated in myeloproliferative neoplasms, leukemias, and lymphomas...
October 27, 2016: Cytokine
https://www.readbyqxmd.com/read/28273187/-the-role-of-driver-and-subclonal-mutations-in-pathogenesis-of-primary-myelofibrosis
#14
Réka Mózes, Ambrus Gángó, Zsófia Boha, Judit Csomor, Csaba Bödör
Primary myelofibrosis (PMF) is a Philadelphia chromosome negative, clonal myeloproliferative neoplasm characterised by a progressive nature. Morphologically, the bone marrow biopsy shows features of abnormal proliferation of terminally differentiated megakaryocytes and subsequent bone marrow fibrosis. The molecular landscape of PMF includes phenotypic driver mutations (JAK2 V617F, CALR and MPL) which represent major diagnostic criteria, and subclonal mutations that also occur in several other myeloid diseases, but have a prognostic value in disease progression of MF...
March 8, 2017: Magyar Onkologia
https://www.readbyqxmd.com/read/28260027/pstat5-and-erk-exhibit-different-expression-in-myeloproliferative-neoplasms
#15
Ewa Wiśniewska-Chudy, Łukasz Szylberg, Grzegorz Dworacki, Ewa Mizera-Nyczak, Andrzej Marszałek
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic progenitor cell disorders characterized by the proliferation of one or more hematopoietic lineages. The classical MPNs include polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) entities. These disorders are characterized by bone marrow morphology typical for each disease, and by the presence of JAK2V617F mutation in the marrow and blood. However, JAK2V617F cannot account for the phenotypic heterogeneity of MPNs because approximately half of all cases of ET and PMF show no evidence of this molecular marker...
April 2017: Oncology Reports
https://www.readbyqxmd.com/read/28251679/risk-factors-for-vascular-complications-and-treatment-patterns-at-diagnosis-of-2389-pv-and-et-patients-real-world-data-from-the-swedish-mpn-registry
#16
Khadija Abdulkarim, Jan Samuelsson, Peter Johansson, Björn Andréasson
OBJECTIVE: The study mainly aimed at investigating possible correlations between peripheral blood counts, erythropoietin (EPO), JAK2 V617F mutation, and vascular complications prior to diagnosis of a population-based cohort of newly diagnosed patients with myeloproliferative neoplasms (MPN). METHOD: The study comprises 1105 patients with polycythemia vera (PV) and 1284 patients with essential thrombocythemia (ET) registered in the Swedish MPN Registry. RESULTS: Vascular complications, prior to diagnosis, were registered in 37% of PV patients...
March 2, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28247057/novel-hematological-parameters-for-the-evaluation-of-patients-with-myeloproliferative-neoplasms-the-immature-platelet-and-reticulocyte-fractions
#17
Paolo Strati, Prithviraj Bose, Lindsey Lyle, Katie Gaw, Lingsha Zhou, Sherry A Pierce, Julie Huynh-Lu, Cheryl F Hirsch-Ginsberg, Daniel E Bueso-Mendoza, Carlos E Bueso-Ramos, Srdan Verstovsek
New automated hematology analyzers have led to the availability of novel hematological parameters, including the immature platelet fraction (IPF) and the immature reticulocyte fraction (IRF), both of potential interest in patients with myeloproliferative neoplasms (MPNs). We performed a prospective analysis of 217 patients with MPN, including 32 (15%) with essential thrombocythemia (ET), 43 (20%) with polycythemia vera (PV), and 142 (65%) with myelofibrosis (MF); the IPF and IRF were measured by the Sysmex XN analyzer...
May 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28246554/splanchnic-vein-thrombosis-in-myeloproliferative-neoplasms-pathophysiology-and-molecular-mechanisms-of-disease
#18
REVIEW
Joan How, Amy Zhou, Stephen T Oh
Myeloproliferative neoplasms (MPNs) are the most common underlying prothrombotic disorder found in patients with splanchnic vein thrombosis (SVT). Clinical risk factors for MPN-associated SVTs include younger age, female sex, concomitant hypercoagulable disorders, and the JAK2 V617F mutation. These risk factors are distinct from those associated with arterial or deep venous thrombosis (DVT) in MPN patients, suggesting disparate disease mechanisms. The pathophysiology of SVT is thought to derive from local interactions between activated blood cells and the unique splanchnic endothelial environment...
March 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28245393/-mutation-of-calr-gene-in-patients-with-chronic-myeloproliferative-neoplasm-and-its-clinical-significance
#19
Qin Tang, Xiu-Wen Zhang, Lei Xia, Nai-Ke Jiang
OBJECTIVE: To analyze the CARL gene mutation in the patients with chronic myeloproliferative neoplasm(MPN) and to explore the clinical significance of CALR mutation. METHODS: The peripheral blood of patients was collected and the genomic DNA was exacted, the 9 exon of CALR gene and the fragment of human thrombopoetic receptor(MPL) gene were amplified by PCR, the mutation of CALR and MPL genes was detected by using the direct sequencing, the JAK2 V617F mutation was detected by using allele spicific PCR...
February 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28241944/cerebrovascular-events-as-presenting-manifestations-of-myeloproliferative-neoplasm
#20
E Ong, F Barraco, N Nighoghossian, A Praire, V Desestret, L Derex, A Vighetto, D Biotti
AIM: To determine the incidence and main characteristics of cerebrovascular events as the presenting manifestations of myeloproliferative neoplasm (MPN). METHODS: The Hematology in Lyon (HEMILY) registry is a prospective database (763 patients) of all cases of MPN diagnosed since 2005 in the Rhône-Alpes district of France. The MPN cases were divided into four groups: polycythemia vera (PV); essential thrombocythemia (ET); myelofibrosis (MF); and atypical MPN. The ischemic stroke subtype was classified according to TOAST criteria...
November 2016: Revue Neurologique
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