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JAK2 V617F

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https://www.readbyqxmd.com/read/28819248/a-portable-microfluidic-platform-for-rapid-molecular-diagnostic-testing-of-patients-with-myeloproliferative-neoplasms
#1
Hua Wang, Xinju Zhang, Xiao Xu, Qunfeng Zhang, Hengliang Wang, Dong Li, Zhihua Kang, Zhiyuan Wu, Yigui Tang, Zhenhua An, Ming Guan
The ability to simultaneously detect JAK2 V617F and MPL W515K/L mutations would substantially improve the early diagnosis of myeloproliferative neoplasms (MPNs) and decrease the risk of arterial thrombosis. The goal of this study is to achieve a point of care testing platform for simultaneous analysis of major genetic alterations in MPN. Here, we report a microfluidic platform including a glass capillary containing polypropylene matrix that extracts genomic DNA from a drop of whole blood, a microchip for simultaneous multi-gene mutation screening, and a handheld battery-powered heating device...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28798246/extramedullary-haematopoiesis-presenting-with-cardiac-tamponade-in-a-patient-with-polycythaemia-vera
#2
Faysal Haroun, Viktoria Elkis, Anne Chen, Elsie Lee
A 71-year-old man with a history of polycythaemia vera, diagnosed 4 years ago, presented to the emergency room with shortness of breath. A bedside echocardiogram revealed a large pericardial effusion with features concerning for pericardial tamponade. A left anterior thoracotomy and a pericardial window were emergently performed in the operating room and relieved the patient's symptoms. Histology evaluation of the pericardial fragments and pericardial fluid revealed the presence of trilineage haematopoietic elements without any increase in the blasts...
August 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28797996/detection-mutations-of-jak2-exon-12-in-patients-with-jak2-v617f-negative-myeloproliferative-disorders
#3
S Z Makani, N Parsamanesh, S Mirzaahmadi, M Hashemi, F Shaveisi-Zadeh, N Mansouri, M Ghazi, A Movafagh
BACKGROUND: Mutations in exon 12 of JAK2 gene are detected as clonal markers in hematopoietic lineages in myeloproliferative disorders (MPNs). Our aim was, to study the relation between N542-E543del mutation of JAK2 gene and myeloproliferative neoplasms in V617Fnegative patients. PATIENTS AND METHODS: DNA specimen from 34 patients and 44 healthy controls were genotyped using ARMs- PCR method. We analyzed exon 12 JAK2 aberration in 34 myeloproliferative cases to be readily detected by both ARMS-PCR and DNA analysis regardless of whether peripheral blood or bone marrow cells was manipulated as the origin of RNA...
May 2017: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28766534/-clinical-features-of-essential-thrombocythemia-and-primary-myelofibrosis-depending-on-the-molecular-characteristics-of-disease
#4
A L Melikyan, I N Subortseva, A B Sudarikov, A M Kovrigina, E A Gilyazitdinova, T I Kolosheinova, A O Abdullaev, S A Treglazova
The aim of the present paper was to evaluate the clinical features and risk of thrombotic events (TE) in patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF), depending on the molecular characteristics of disease. Clinical data and laboratory parameters were analyzed in 50 ET patients and 50 PMF ones who had been followed up at the Department for Standardization of Treatments, National Research Center for Hematology, Ministry of Health of the Russian Federation, from February 2015 to September 2016...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28733177/transjugular-local-thrombolysis-with-without-tips-in-patients-with-acute-non-cirrhotic-non-malignant-portal-vein-thrombosis
#5
Christoph Klinger, Bettina Riecken, Arthur Schmidt, Andrea De Gottardi, Benjamin Meier, Jaime Bosch, Karel Caca
BACKGROUND & AIMS: Therapeutic anticoagulation is the standard treatment in patients with acute non-cirrhotic portal vein thrombosis (PVT). In critically ill patients, anticoagulation only may not suffice to achive rapid and stable recanalization. This study evaluates efficacy and safety of transjugular interventional therapy in acute non-cirrhotic PVT. METHODS: This retrospective study includes 17 consecutive patients with acute noncirrhotic, non-malignant PVT...
June 27, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28728747/endothelial-to-mesenchymal-transition-in-bone-marrow-and-spleen-of-primary-myelofibrosis
#6
Benedetta Gaia Erba, Cristian Gruppi, Monica Corada, Federica Pisati, Vittorio Rosti, Niccolo' Bartalucci, Jean-Luc Villeval, Alessandro Maria Vannucchi, Giovanni Barosi, Alessandra Balduini, Elisabetta Dejana
Primary myelofibrosis is characterized by the development of fibrosis in the bone marrow that contributes to ineffective hematopoiesis. Bone marrow fibrosis is the result of a complex and not yet fully understood interaction among megakaryocytes, myeloid cells, fibroblasts, and endothelial cells. Here, we report that >30% of the endothelial cells in the small vessels of the bone marrow and spleen of patients with primary myelofibrosis have a mesenchymal phenotype, which is suggestive of the process known as endothelial-to-mesenchymal transition (EndMT)...
August 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28710306/ruxolitinib-treatment-in-an-infant-with-jak2-polycythaemia-vera-associated-budd-chiari-syndrome
#7
Mehmet Enes Coskun, Sue Height, Anil Dhawan, Nedim Hadzic
Budd-Chiari syndrome (BCS) is caused by hepatic venous outflow obstruction commonly seen with myeloproliferative neoplasms (MPNs). Polycythaemia vera (PV) is a very rare MPN in childhood. This is the youngest reported patient diagnosed with PV and BCS secondary to JAK V617F mutation.A 26-month-old girl was admitted with a 5-month history of abdominal distension, hepatosplenomegaly and ascites. Imaging studies revealed occlusion of the right hepatic vein and marked attenuation of the middle and left hepatic veins...
July 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28702412/megakaryocytic-morphology-in-janus-kinase-2-v617f-positive-myeloproliferative-neoplasm
#8
Shuchi Ghai, Sharada Rai
CONTEXT: Alterations in megakaryocyte morphology are the hallmark of myeloproliferative neoplasms (MPNs). These neoplasm are also associated with Janus kinase 2 (JAK2) V617F mutation in nearly 95% patients with polycythemia vera (PV), 40% patients of essential thrombocythemia (ET) and 50% patients of myelofibrosis (MF). The utility of megakaryocyte morphology in these disorders in correlation with JAK2 V617F remains unresolved. AIMS: The aim of the study was to assess the morphology of megakaryocytes in bone marrow aspirates (BMAs) and bone marrow biopsies of patients of BCR-ABL negative MPNs with JAK2 V617F mutation...
April 2017: South Asian Journal of Cancer
https://www.readbyqxmd.com/read/28700486/progression-of-primary-myelofibrosis-to-polycythemia-vera-a-case-report
#9
Yan Guo, Wenwei Xu, Lin Dong, Ning Huang, Kehong Bi
RATIONALE: This case report describes the progression of primary myelofibrosis (PMF) to polycythemia vera (PV), and discuss its potential mechanisms. PATIENT CONCERNS: The patient was admitted because of abdominal discomfort and enlarged spleen for 19 months. DIAGNOSIS: A case of PMF progressed to PV was retrospectively analyzed. There were 19 months between the diagnosis of PMF and PV. The JAK2 V617F mutation was positive before and after the diagnosis of PV; however, new chromosomal abnormalities were detected during the progression...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28692109/acute-transmural-myocardial-infarction-by-coronary-embolism-in-a-patient-with-jak2-v617f-positive-essential-thrombocythemia
#10
Johannes Rotta Detto Loria, Justyna Rawluk, Tobias Krauss, Christoph Bode, Martin Moser, Thomas Helbing
No abstract text is available yet for this article.
July 10, 2017: Hämostaseologie
https://www.readbyqxmd.com/read/28685257/budd-chiari-syndrome-hepatic-venous-outflow-tract-obstruction
#11
REVIEW
Dominique-Charles Valla
BACKGROUND: Budd-Chiari syndrome (BCS) is a rare disease characterized by hepatic venous outflow tract obstruction (HVOTO). METHODS: Recent literature has been analyzed for this narrative review. RESULTS: Primary BCS/HVOTO is a result of thrombosis. The same patient often has multiple risk factors for venous thrombosis and most have at least one. Presentation and etiology may differ between Western and certain Eastern countries. Myeloproliferative neoplasms are present in 40% of patients and are usually associated with the V617F-JAK2 mutation in myeloid cells, in particular peripheral blood granulocytes...
July 6, 2017: Hepatology International
https://www.readbyqxmd.com/read/28680586/pulmonary-extra-medullary-hematopoiesis-and-pulmonary-hypertension-from-underlying-polycythemia-vera-a-case-series
#12
Inderjit Singh, Geoffrey Mikita, Daniel Green, Cristobal Risquez, Abraham Sanders
Myeloproliferative neoplasia (MPN)-associated pulmonary hypertension (PH) is included in group five of the most recent clinical classification of PH.(1) The MPNs are a heterogeneous group of disorders that includes disorders with primary expression of a myeloid phenotype and disorders characterized by expression of the Janus Kinase 2 (JAK2) mutation, p.V617F. The latter includes essential thrombocytosis, polycythemia vera, and idiopathic myelofibrosis.(2) Pulmonary extra-medullary hematopoiesis (EMH) refers to the presence of hematopoietic precursor cells in the lung...
March 2017: Pulmonary Circulation
https://www.readbyqxmd.com/read/28677265/epigenetics-in-myeloproliferative-neoplasms
#13
REVIEW
Suzanne McPherson, Mary Frances McMullin, Ken Mills
A decade on from the description of JAK2 V617F, the MPNs are circumscribed by an increasingly intricate landscape. There is now evidence that they are likely the result of combined genetic dysregulation, with several mutated genes involved in the regulation of epigenetic mechanisms. Epigenetic changes are not due to a change in the DNA sequence but are reversible modifications that dictate the way in which genes may be expressed (or silenced). Among the epigenetic mechanisms, DNA methylation is probably the best described...
September 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28641646/-clinical-characteristics-and-long-term-outcome-of-125-chinese-young-patients-with-essential-thrombocythemia
#14
Rong-Feng Fu, Xiao-Fan Liu, Wei Liu, Yue-Ting Huang, Yun-Fei Chen, Hui-Yuan Li, Man-Kai Ju, Ren-Chi Yang, Lei Zhang
OBJECTIVE: To investigate the clinical characteristics and long-term outcome of Chinese young patients (≤40 years) with essential thrombocythemia(ET), and to develop a thrombosis predicting model specific for young patients with ET, so as to provide a new evidence for risk stratification and treatment. METHODS: Medical records of 125 Chinese young patients with newly diagnosed of ET were retrospectively analyzed. RESULTS: The median age at diagnosis was 32 (18-40) years old, with 37 males and 88 females...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28639892/jak2-variations-and-functions-in-lung-adenocarcinoma
#15
Yanjun Xu, Juan Jin, Jiawei Xu, Yang W Shao, Yun Fan
Lung cancer ranks as the first most common cancer and the first leading cause of cancer-related death in China and worldwide. Due to the difficulty in early diagnosis and the onset of cancer metastasis, the 5-year survival rate of lung cancer remains low. JAK2 has emerged as pivotal participant in biological processes, often dysregulated in a range of cancers. Recently our study found that JAK2 might play an important role in lung cancer pathogenesis. While our understanding of JAK2 in the onset and progression of lung cancer is still in its infancy, there is no doubt that understanding the variations and functions of JAK2 will certainly secure strong biomarkers and improve treatment options for lung cancer patients...
June 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28626521/identification-and-characterization-of-jak2-pseudokinase-domain-small-molecule-binders
#16
David E Puleo, Kaury Kucera, Henrik M Hammarén, Daniela Ungureanu, Ana S Newton, Olli Silvennoinen, William L Jorgensen, Joseph Schlessinger
Janus kinases (JAKs) regulate hematopoiesis via the cytokine-mediated JAK-STAT signaling pathway. JAKs contain tandem C-terminal pseudokinase (JH2) and tyrosine kinase (JH1) domains. The JAK2 pseudokinase domain adopts a protein kinase fold and, despite its pseudokinase designation, binds ATP with micromolar affinity. Recent evidence shows that displacing ATP from the JAK2 JH2 domain alters the hyperactivation state of the oncogenic JAK2 V617F protein while sparing the wild type JAK2 protein. In this study, small molecule binders of JAK2 JH2 were identified via an in vitro screen...
June 8, 2017: ACS Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28620086/a-genetic-screen-reveals-an-unexpected-role-for-yorkie-signaling-in-jak-stat-dependent-hematopoietic-malignancies-in-drosophila-melanogaster
#17
Abigail M Anderson, Alessandro A Bailetti, Elizabeth Rodkin, Atish De, Erika A Bach
A gain-of-function mutation in the tyrosine kinase JAK2 (JAK2(V617F) ) causes human myeloproliferative neoplasms (MPNs). These patients present with high numbers of myeloid lineage cells and have numerous complications. Since current MPN therapies are not curative, there is a need to find new regulators and targets of Janus kinase/Signal transducer and activator of transcription (JAK/STAT) signaling that may represent additional clinical interventions . Drosophila melanogaster offers a low complexity model to study MPNs as JAK/STAT signaling is simplified with only one JAK [Hopscotch (Hop)] and one STAT (Stat92E)...
August 7, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28609766/should-we-screen-for-janus-kinase-2-v617f-mutation-in-cerebral-venous-thrombosis
#18
Matthias Lamy, Paola Palazzo, Pierre Agius, Jean Claude Chomel, Jonathan Ciron, Aline Berthomet, Paul Cantagrel, Julia Prigent, Pierre Ingrand, Mathieu Puyade, Jean-Philippe Neau
BACKGROUND: The presence of Janus Kinase 2 (JAK2) V617F mutation represents a major diagnostic criterion for detecting myeloproliferative neoplasms (MPN) and even in the absence of overt MPN, JAK2 V617F mutation is associated with splanchnic vein thrombosis. However, the actual prevalence and diagnostic value of the JAK2 V617F mutation in patients with cerebral venous thrombosis (CVT) are not known. The aims of this study were to assess the prevalence of JAK2 V617F mutation in a large group of consecutive CVT patients, to detect clinical, biological, and radiological features associated with the mutation, and to determine the long-term venous thrombosis recurrence rate in CVT patients with JAK2 mutation but without overt MPN in order to recommend the best preventive treatment...
June 14, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28602946/whole-genome-analysis-reveals-unexpected-dynamics-of-mutant-subclone-development-in-a-patient-with-jak2-v617f-positive-chronic-myeloid-leukemia
#19
Ivan Sloma, Maria Teresa Mitjavila-Garcia, Olivier Feraud, Frank Griscelli, Noufissa Oudrhiri, Sanaa El Marsafy, Emilie Gobbo, Dominique Divers, Alexis Proust, David M Smadja, Christophe Desterke, Annaick Carles, Yusanna Ma, Martin Hirst, Marco A Marra, Connie J Eaves, Annelise Bennaceur-Griscelli, Ali G Turhan
We report here the first use of whole-genome sequencing (WGS) to examine the initial clonal dynamics in an unusual patient with chronic myeloid leukemia (CML), who presented in chronic phase (CP) with doubly marked BCR-ABL1(+)/JAK2(V617F)-mutant cells and, over a 9-year period, progressed into an accelerated phase (AP) and then terminal blast phase (BP). WGS revealed that the diagnostic cells also contained mutations in ASXL1, SEC23B, MAD1L1, and RREB1 as well as 12,000 additional uncommon DNA variants. WGS of endothelial cells generated from circulating precursors revealed many of these were shared with the CML clone...
June 8, 2017: Experimental Hematology
https://www.readbyqxmd.com/read/28596259/morphologic-and-molecular-characteristics-of-de-novo-aml-with-jak2-v617f-mutation
#20
Juliana E Hidalgo-López, Rashmi Kanagal-Shamanna, L Jeffrey Medeiros, Zeev Estrov, C Cameron Yin, Srdan Verstovsek, Sergej Konoplev, Jeffrey L Jorgensen, Mohammad M Mohammad, Roberto N Miranda, Chong Zhao, John Lee, Zhuang Zuo, Carlos E Bueso-Ramos
Background:JAK2 V617F mutation (mut) in acute myeloid leukemia (AML) is rare. We describe the clinicopathologic findings of a single-institution series of 11 de novo AML cases with JAK2 V617. Methods: We identified cases of de novo AML with JAK2 V617F over a 10-year period. We reviewed diagnostic peripheral blood and bone marrow (BM) morphologic, cytogenetic, and molecular studies, including next-generation sequencing. The control group consisted of 12 patients with JAK2 wild-type (wt) AML matched for age, sex, and diagnosis...
June 2017: Journal of the National Comprehensive Cancer Network: JNCCN
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