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Essential thrombocytosis

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https://www.readbyqxmd.com/read/28211153/the-prognostic-relevance-of-serum-lactate-dehydrogenase-and-mild-bone-marrow-reticulin-fibrosis-in-essential-thrombocythemia
#1
Mythri Mudireddy, Daniela Barraco, Curtis A Hanson, Animesh Pardanani, Naseema Gangat, Ayalew Tefferi
The 2016 World Health Organization (WHO) diagnostic criteria for myeloproliferative neoplasms (MPN) underscore the prognostically-relevant distinction between essential thrombocythemia (ET) and prefibrotic primary myelofibrosis (pre-PMF). In addition, leukocytosis has been identified as an important prognostic marker in otherwise WHO-defined ET. However, controversy remains regarding the objectivity of morphologic criteria in distinguishing ET from pre-PMF and the precise prognostic cutoff values for leukocytosis...
February 17, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28188970/refractory-anemia-with-ring-sideroblasts-rars-and-rars-with-thrombocytosis-rars-t-2017-update-on-diagnosis-risk-stratification-and-management
#2
Mrinal M Patnaik, Ayalew Tefferi
DISEASE OVERVIEW: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). DIAGNOSIS: MDS-RS is a lower risk MDS, with single or multilineage dysplasia (SLD/MLD), <5% bone marrow (BM) blasts and ≥15% BM RS (≥5% in the presence of SF3B1 mutations)...
March 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28145534/thrombin-generation-a-potentially-useful-biomarker-of-thrombotic-risk-in-philadelphia-negative-myeloproliferative-neoplasms
#3
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/28113109/pegylated-interferon-alpha-2a-is-clinically-effective-and-tolerable-in-myeloproliferative-neoplasm-patients-treated-off-clinical-trial
#4
K Gowin, T Jain, H Kosiorek, R Tibes, J Camoriano, J Palmer, R Mesa
Polycythemia vera, essential thrombocytosis, and myelofibrosis are chronic Philadelphia-negative myeloproliferative neoplasms that are characterized by clonal hematopoiesis, splenomegaly, risk of hemorrhagic and thrombotic sequelae, and profound symptom burden. We review the outcomes of 75 myeloproliferative neoplasm patients treated with pegylated interferon alpha 2a off study at an academic medical center. In the 56 treated polycythemia vera and essential thrombocytosis patients, a complete or partial response was obtained in 78...
January 5, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28028026/diagnosis-risk-stratification-and-response-evaluation-in-classical-myeloproliferative-neoplasms
#5
REVIEW
Elisa Rumi, Mario Cazzola
Philadelphia-negative classical myeloproliferative neoplasms (MPNs) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). The 2016 revision of the WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues includes new criteria for the diagnosis of these disorders. Somatic mutations in the 3 driver genes, that is, JAK2, CALR, and MPL, represent major diagnostic criteria in combination with hematologic and morphological abnormalities. PV is characterized by erythrocytosis with suppressed endogenous erythropoietin production, bone marrow panmyelosis, and JAK2 mutation...
February 9, 2017: Blood
https://www.readbyqxmd.com/read/27991718/polycythemia-vera-and-essential-thrombocythemia-2017-update-on-diagnosis-risk-stratification-and-management
#6
Ayalew Tefferi, Tiziano Barbui
DISEASE OVERVIEW: Polycythemia Vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms respectively characterized by erythrocytosis and thrombocytosis; other disease features include leukocytosis, splenomegaly, thrombosis, bleeding, microcirculatory symptoms, pruritus, and risk of leukemic or fibrotic transformation. DIAGNOSIS: PV is defined by a JAK2 mutation, whose absence, combined with normal or increased serum erythropoietin level, makes the diagnosis unlikely...
January 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/27984634/approach-to-patients-with-essential-thrombocythaemia-and-very-high-platelet-counts-what-is-the-evidence-for-treatment
#7
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/27966016/austrian-recommendations-for-the-management-of-primary-myelofibrosis-post-polycythemia-vera-myelofibrosis-and-post-essential-thrombocythemia-myelofibrosis-an-expert-statement
#8
Thamer Sliwa, Christine Beham-Schmid, Sonja Burgstaller, Veronika Buxhofer-Ausch, Günther Gastl, Klaus Geissler, Maria Krauth, Peter Krippl, Alois Lang, Andreas Petzer, Stefan Wöhrer, Albert Wölfler, Heinz Gisslinger
The entity "myelofibrosis" represents a subgroup of the Philadelphia chromosome-negative myeloproliferative neoplasms. It comprises primary myelofibrosis, post-polycythemia vera myelofibrosis and post-essential thrombocythemia myelofibrosis. This heterogeneous disease is characterized by clonal myeloproliferation, dysregulated kinase signalling and the abnormal expression of several proinflammatory cytokines. Clinically, patients present with symptoms related to thrombocytosis/leukocytosis, anemia and/or progressive splenomegaly...
December 13, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27895669/myeloproliferative-disease-an-unusual-cause-of-raynaud-s-phenomenon-and-digital-ischaemia
#9
Celia Beynon, Gwenan Huws, Tom Lawson
We describe a 59-year-old female who presented with ischaemic digits, preceded by a 6-month history of Raynaud's phenomenon affecting her fingers and toes. There were no clinical or laboratory features of primary vasculitis or connective tissue disease, Doppler imaging was normal, and bloods were unremarkable aside from a platelet count of 786 × 109/L (150-400) and white cells of 16 × 109/L (4-11). In view of the thrombocytosis a JAK2 mutation assay was requested which confirmed a JAK2 V617F mutation, suggesting essential thrombocytosis (ET) as the cause...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27866579/polycythemia-and-thrombocytosis
#10
REVIEW
Aric Parnes, Arvind Ravi
Myeloproliferative neoplasms (MPNs) are diseases of excess cell proliferation from bone marrow precursors. Two classic MPNs, polycythemia vera (PV) and essential thrombocytosis (ET), are conditions of excess proliferation of red blood cells and platelets, respectively. Although PV and ET involve different cells in the myeloid lineage, their clinical presentations have shared features, consistent with overlapping mutations in growth factor signaling. The management of both diseases involves minimizing the risk of thrombotic and hemorrhagic complications...
December 2016: Primary Care
https://www.readbyqxmd.com/read/27855276/detection-of-calr-and-mpl-mutations-in-low-allelic-burden-jak2-v617f-essential-thrombocythemia
#11
Fabrice Usseglio, Nathalie Beaufils, Anne Calleja, Sophie Raynaud, Jean Gabert
Myeloproliferative neoplasms are clonal hematopoietic stem cell disorders characterized by aberrant proliferation and an increased tendency toward leukemic transformation. The genes JAK2, MPL, and CALR are frequently altered in these syndromes, and their mutations are often a strong argument for diagnosis. We analyzed the mutational profiles of these three genes in a cohort of 164 suspected myeloproliferative neoplasms. JAK2 V617F mutation was detected by real-time PCR, whereas high-resolution melting analysis followed by Sanger sequencing were used for searching for mutations in JAK2 exon 12, CALR, and MPL...
January 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27825182/practical-aspects-of-monitoring-of-antiplatelet-therapy
#12
Ljubica Jovanovic, Nebojsa Antonijevic, Tina Novakovic, Nebojsa Savic, Branka Terzic, Ivana Zivkovic, Nebojsa Radovanovic, Milika Asanin
Despite the application of new antiplatelet drugs (prasugrel and ticagrelor), dual antiplatelet therapy with clopidogrel and aspirin remains the standard for patients with acute coronary syndrome undergoing percutaneous coronary intervention, especially in countries of low socioeconomic status. Regardless of the proven benefits, numerous studies have shown that certain groups of patients who receive standard doses of clopidogrel and aspirin do not respond adequately, and many of them also exhibit adverse cardiovascular events...
February 2017: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/27807369/calreticulin-mutant-mice-develop-essential-thrombocythemia-that-is-ameliorated-by-the-jak-inhibitor-ruxolitinib
#13
K Shide, T Kameda, T Yamaji, M Sekine, N Inada, A Kamiunten, K Akizuki, K Nakamura, T Hidaka, Y Kubuki, H Shimoda, A Kitanaka, A Honda, A Sawaguchi, H Abe, T Miike, H Iwakiri, Y Tahara, M Sueta, S Hasuike, S Yamamoto, K Nagata, K Shimoda
Mutations of calreticulin (CALR) are detected in 25-30% of patients with essential thrombocythemia (ET) or primary myelofibrosis and cause frameshifts that result in proteins with a novel C-terminal. We demonstrate that CALR mutations activated signal transducer and activator of transcription 5 (STAT5) in 293T cells in the presence of thrombopoietin receptor (MPL). Human megakaryocytic CMK11-5 cells and erythroleukemic F-36P-MPL cells with knocked-in CALR mutations showed increased growth and acquisition of cytokine-independent growth, respectively, accompanied by STAT5 phosphorylation...
November 29, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27734130/management-of-extreme-thrombocytosis-in-myeloproliferative-neoplasms-an-international-physician-survey
#14
Maya Koren-Michowitz, Noa Lavi, Martin H Ellis, Alessandro M Vannucchi, Ruben Mesa, Claire N Harrison
Extreme thrombocytosis (ExT) has been associated with an increased bleeding risk in myeloproliferative neoplasm (MPN) patients and is included in the high risk category in treatment guidelines. Treatment of patients with ExT has not been studied in prospective trials. To study physicians' approaches to ExT, we distributed a web based questionnaire with clinical case scenarios to 202 members of MPN working groups. Cases included low thrombotic risk essential thrombocythemia (ET) with either JAK2V617F or CALR mutation, polycythemia vera with ExT either with or without leukocytosis, an ET patient needing urgent orthopedic surgery, and a poorly controlled ET patient with acute cerebral venous sinus thrombosis...
January 2017: Annals of Hematology
https://www.readbyqxmd.com/read/27734003/essential-thrombocytosis-associated-thromboembolism-in-the-abdominal-aorta
#15
Byung Kwon Chong, Dana Mun, Chae Hoon Kang, Chong-Bin Park, Won Chul Cho
Essential thrombocytosis (ET) is a myeloproliferative disorder characterized by an anomalous increase in platelet production. Many patients with ET are asymptomatic. Few studies have reported ET-associated thromboembolism in large vessels such as the aorta. We report a patient with ET who presented with peripheral embolism from an abdominal aortic thrombus and developed acute limb ischemia. The patient underwent aortic replacement successfully. The patient's platelet count was controlled with hydroxyurea, and no recurrence was noted over 2 years of follow-up...
October 2016: Korean Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27728317/jack-2-negative-essential-thrombocytosis-with-portal-vein-thrombosis-and-portal-cavernoma-formation-a-case-report
#16
Ankit Sharma
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27725592/myeloproliferative-neoplasms-updates-on-molecular-pathophysiology-diagnosis-and-treatment-strategies
#17
Katsuto Takenaka
Myeloproliferative neoplasms (MPNs) are chronic hematopoietic stem cell disorders, including polycythemia vera, essential thrombocytosis, and primary myelofibrosis. The JAK2V617F mutation was identified in 2005, followed by the discovery of the JAK2 exon12, MPNW515 mutation, and CALR mutation. About 90% of patients with BCR/ABL negative MPNs have been shown to have one of these driver mutations. In addition, mutations in epigenetic regulators and RNA splicing genes were found to co-exist with driver mutations and to play critical roles in the disease progression of MPNs...
2016: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/27716741/expression-of-calr-mutants-causes-mpl-dependent-thrombocytosis-in-zebrafish
#18
K-H Lim, Y-C Chang, Y-H Chiang, H-C Lin, C-Y Chang, C-S Lin, L Huang, W-T Wang, C Gon-Shen Chen, W-C Chou, Y-Y Kuo
CALR mutations are identified in about 30% of JAK2/MPL-unmutated myeloproliferative neoplasms (MPNs) including essential thrombocythemia (ET) and primary myelofibrosis. Although the molecular pathogenesis of CALR mutations leading to MPNs has been studied using in vitro cell lines models, how mutant CALR may affect developmental hematopoiesis remains unknown. Here we took advantage of the zebrafish model to examine the effects of mutant CALR on early hematopoiesis and model human CALR-mutated MPNs. We identified three zebrafish genes orthologous to human CALR, referred to as calr, calr3a and calr3b...
October 7, 2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/27682603/non-invasive-imaging-of-retinal-blood-flow-in-myeloproliferative-neoplasms
#19
Anne Willerslev, Mathias M Hansen, Oliver Niels Klefter, Ole Weis Bjerrum, Hans C Hasselbalch, Stine N Clemmensen, Michael Larsen, Inger Christine Munch
PURPOSE: To study the circulation in the retinal vessels in patients with blood dyscrasia due to myeloproliferative neoplasms using non-invasive retinal imaging. METHODS: Prospective consecutive case series of seven treatment-naïve patients with chronic myeloid leukaemia (n = 2), polycythemia vera (n = 4), essential thrombocytosis (n = 1) examined before and after cytoreductive treatment. We investigated retinal circulation with motion-contrast imaging, retinal oximetry and spectral-domain optical coherence tomography...
September 29, 2016: Acta Ophthalmologica
https://www.readbyqxmd.com/read/27588186/myelodysplastic-syndrome-without-ring-sideroblasts-and-with-janus-kinase-2-gene-mutation-an-unusual-case-report
#20
Maria Helena Ornellas, Monique De França Silva, Cristiana Solza, Stella Beatriz Sampaio De Lucena Gonçalves, Liliane Silva De Almeida, Jackline De Paula Ayres-Silva, Taís Leite Seixas, Elenice Ferreira Bastos, Thomas Liehr, Gilda Alves
Myelodysplastic syndrome (MDS) cases comprise a heterogeneous group of hematological disorders that are characterized by impaired hematopoiesis, with cytopenias of different grades and risk of developing acute myeloid leukemia. MDS may rarely be associated with thrombocytosis. In such cases, myelodysplasia and myeloproliferative disorders may overlap, making correct diagnosis difficult. We herein describe a case of MDS with thrombocytosis, Janus kinase 2 gene mutation-positive and Perls' staining-negative, which was initially classified as essential thrombocythemia (ET)...
September 2016: Molecular and Clinical Oncology
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