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Essential thrombocytosis

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https://www.readbyqxmd.com/read/28794072/ruxolitinib-versus-best-available-therapy-for-et-intolerant-or-resistant-to-hydroxycarbamide-in-a-randomized-trial
#1
Claire N Harrison, Adam J Mead, Anesh Panchal, Sonia Fox, Christina Yap, Emmanouela Gbandi, Aimee Houlton, Samah Alimam, Joanne Ewing, Marion Wood, Frederick Chen, Jason Coppell, Nicki Panoskaltsis, Steven Knapper, Sahra Ali, Angela Hamblin, Ruben Scherber, Amylou C Dueck, Nicholas C P Cross, Ruben Mesa, Mary Frances McMullin
Treatments for high-risk essential thrombocythemia (ET) address thrombocytosis, disease-related symptoms, as well as risks of thrombosis, hemorrhage, transformation to myelofibrosis and leukemia. Patients resistant/intolerant to hydroxycarbamide (HC) have a poor outlook. MAJIC (ISRCTN61925716) is a randomized phase II trial of ruxolitinib (JAK1/2 inhibitor) vs Best Available Therapy (BAT) in ET and polycythemia vera (PV) patients resistant or intolerant to HC. Here findings of MAJIC-ET are reported, where the modified intention-to-treat population included 58 & 52 patients randomized to receive ruxolitinib or BAT respectively...
August 9, 2017: Blood
https://www.readbyqxmd.com/read/28766534/-clinical-features-of-essential-thrombocythemia-and-primary-myelofibrosis-depending-on-the-molecular-characteristics-of-disease
#2
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/28740456/carotid-artery-stiffness-digital-endothelial-function-and-coronary-calcium-in-patients-with-essential-thrombocytosis-free-of-overt-atherosclerotic-disease
#3
Matjaz Vrtovec, Ajda Anzic, Irena Preloznik Zupan, Katja Zaletel, Ales Blinc
BACKGROUND: Patients with myeloproliferative neoplasms (MPNs) are at increased risk for atherothrombotic events. Our aim was to determine if patients with essential thrombocytosis (ET), a subtype of MPNs, free of symptomatic atherosclerosis, have greater carotid artery stiffness, worse endothelial function, greater coronary calcium and carotid plaque burden than control subjects. PATIENTS AND METHODS: 40 ET patients without overt vascular disease, and 42 apparently healthy, age and sex-matched control subjects with comparable classical risk factors for atherosclerosis and Framingham risk of coronary disease were enrolled...
June 2017: Radiology and Oncology
https://www.readbyqxmd.com/read/28725653/calr-positive-myeloproliferative-disorder-in-a-patient-with-ph-positive-chronic-myeloid-leukemia-in-durable-treatment-free-remission-a-case-report
#4
Irene Dogliotti, Carmen Fava, Anna Serra, Enrico Gottardi, Filomena Daraio, Francesca Carnuccio, Emilia Giugliano, Monica Bocchia, Giuseppe Saglio, Giovanna Rege-Cambrin
Current diagnostic criteria for Philadelphia-negative myeloproliferative neoplasia (MPN) have been redefined by the discovery of Janus kinase 2 (JAK2), myeloproliferative leukemia (MPL) and calreticulin (CALR) genetic alterations. Only few cases of coexistence of CALR-mutated MPN and Philadelphia-positive chronic myeloid leukemia (CML) have been described so far. Here we report the case of a patient with CML diagnosed in 2001, treated with imatinib and pegylated interferon (IFN) frontline. She reached complete molecular remission (CMR) and discontinued imatinib, maintaining treatment free remission...
2017: Stem Cell Investigation
https://www.readbyqxmd.com/read/28688466/leukemic-transformation-in-myeloproliferative-neoplasms-a-literature-review-on-risk-characteristics-and-outcome
#5
REVIEW
Meera Yogarajah, Ayalew Tefferi
Myeloproliferative neoplasms (MPNs) operationally include essential thrombocythemia, polycythemia vera, primary myelofibrosis (PMF), and prefibrotic PMF. All 4 MPN variants might progress into blast-phase disease (MPN-BP). For essential thrombocythemia, reported risk factors for leukemic transformation include advanced age, extreme thrombocytosis, anemia, leukocytosis, and sequence variants/mutations involving TP53 and EZH2 (for expansion of gene symbols, see www.genenames.org); for polycythemia vera, advanced age, leukocytosis, abnormal karyotype, mutations involving SRSF2 and IDH2, and treatment with pipobroman, chlorambucil, or P32; and for PMF, increased blast percentage, thrombocytopenia, abnormal karyotype, triple-negative driver mutational status, and sequence variants/mutations involving SRSF2, RUNX1, CEBPA, and SH2B3...
July 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28680586/pulmonary-extra-medullary-hematopoiesis-and-pulmonary-hypertension-from-underlying-polycythemia-vera-a-case-series
#6
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/28584607/essential-thrombocythemia-in-a-two-year-old-child-responsive-to-hydroxyurea-but-not-aspirin
#7
Tariq N Aladily, Randa S Mohammad, Ali Al-Khader, Abdalla S Awidi
Essential thrombocythemia (ET) is a myeloproliferative neoplasm that occurs mostly in patients above the age of 50 years. Its incidence in children is very rare, with around 100 cases reported in the literature. High-risk patients are defined by previous life threatening major thrombotic or severe hemorrhagic complication or age > 60. Those patients probably benefit from cytoreductive therapy. On the other hand, antiplatelet drugs are recommended for patients with low risk group. Although rare, ET should be considered in the differential diagnosis of persistent thrombocytosis in children, even at a very young age...
May 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/28520566/essential-thrombocytosis-and-labor-epidural-placement-while-on-aspirin-assessing-hemorrhagic-risks-a-case-report
#8
Paul Martin Kempen
Essential thrombocytosis (ET) is a rare disease with known thrombotic and bleeding complications. We encountered a patient with a diagnosis of longstanding Janus kinase-2 gene-negative ET on aspirin therapy presenting for labor epidural. Evaluation of platelet function with pointof-care analysis using Plateletworks in a community hospital setting allowed confirmation of adequate numbers of functional platelets to support safe epidural placement. The relevant issues of ET for anesthesia management with labor epidurals are discussed...
May 17, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28503969/essential-thrombocythemia-a-review-of-the-clinical-features-diagnostic-challenges-and-treatment-modalities-in-the-era-of-molecular-discovery
#9
Sarah Chuzi, Brady L Stein
Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm that is associated with diminished quality of life, thrombohemorrhagic complications, and transformation to myelofibrosis (MF) and acute leukemia (AML). The important recent discoveries of driver mutations, including the calreticulin gene in addition to JAK2 and MPL, have led to a greater understanding of disease pathogenesis and set the stage for the advent of more sophisticated prognostic, diagnostic, and therapeutic strategies. In this paper we summarize recent studies describing the molecular basis of ET...
May 15, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28419183/comparison-of-the-mutational-profiles-of-primary-myelofibrosis-polycythemia-vera-and-essential-thrombocytosis
#10
Jinming Song, Mohammad Hussaini, Hailing Zhang, Haipeng Shao, Dahui Qin, Xiaohui Zhang, Zhenjun Ma, Syeda Mahrukh Hussnain Naqvi, Ling Zhang, Lynn C Moscinski
Objectives: To compare the mutational profiles of patients with primary myelofibrosis (PMF), polycythemia vera (PV), and essential thrombocytosis (ET). Methods: Next-generation sequencing results of 75 cases of PMF, 33 cases of PV, and 27 cases of ET were compared. Results: Mutation rates of ASXL1 and SRSF2 were significantly higher in PMF than in PV or ET. ASXL1 mutations appeared to be more frequently associated with risk of transformation to acute myeloid leukemia than JAK2 or TET2 mutations...
April 15, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28376576/mucocutaneous-lesions-and-nail-pigmentation-in-a-patient-with-essential-thrombocytosis
#11
Alba Calleja Algarra, Raquel Aragón Miguel, Fátima Tous Romero, Lidia Maroñas Jiménez
No abstract text is available yet for this article.
2017: Australian Family Physician
https://www.readbyqxmd.com/read/28285408/essential-thrombocythemia-presenting-as-acute-coronary-syndrome-case-reports-and-literature-review
#12
Nanqing Xiong, Wen Gao, Junjie Pan, Xinping Luo, Haiming Shi, Jian Li
For the patients with essential thrombocythemia (ET), systemic thrombosis presents as one of the most dangerous complications. It's been widely accepted that acute coronary syndrome (ACS) is a kind of thrombotic diseases. However, there are very few case reports about ET first presenting as ACS. For some patients diagnosed as ACS, but without markedly elevated platelet, underlying ET was missed. And there are some controversies in the principles and target of treatment in those patients. We reported three cases of ACS, in which the patients who did not have common risk factors for coronary artery diseases and presented only mild atherosclerotic stenosis during coronary angiography, one of which had recurrent coronary artery thrombosis...
July 2017: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/28259826/medical-management-of-extensive-arterial-thromboembolism-in-a-patient-with-essential-thrombocythemia-and-warfarin-failure
#13
Aisha K Ahmed, Alicia Youssef, Nedaa Skeik
Chronic myeloproliferative disorders share a stem cell-derived clonal myeloproliferation. This group of disorders include essential thrombocythemia (ET), polycythemia vera (PV), chronic myeloid leukemia, and primary myelofibrosis (PMF), with the respective features of thrombocytosis, erythrocytosis, and bone marrow fibrosis. These disorders can be associated with genetic mutations affecting protein tyrosine kinases, resulting in different configurations of abnormal signal transduction. The Janus tyrosine kinase 2 mutation can be used as a key diagnostic tool for diagnosing MPDs, specifically, ET, PV, and PMF...
March 1, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28245393/-mutation-of-calr-gene-in-patients-with-chronic-myeloproliferative-neoplasm-and-its-clinical-significance
#14
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/28219560/a-novel-approach-to-essential-thrombocythemia-and-cardiac-surgery
#15
Bradford B Smith, Gregory A Nuttall, Rajiv K Pruthi, David L Joyce, Matthew S Schuldes, Mark M Smith
Essential thrombocythemia (ET) is a myeloproliferative disorder characterized by persistent thrombocytosis (>450 × 10(9)/L). Patients with ET are at risk for thrombotic or hemorrhagic complications especially during cardiovascular operations. We discuss a patient with ET requiring coronary artery bypass grafting with a presenting platelet count of 1631 × 10(9)/L. Platelet reduction with an intraoperative autologous transfusion technique decreased the platelet count to 758 × 10(9)/L before initiation of cardiopulmonary bypass...
March 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28211153/the-prognostic-relevance-of-serum-lactate-dehydrogenase-and-mild-bone-marrow-reticulin-fibrosis-in-essential-thrombocythemia
#16
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...
May 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
#17
REVIEW
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
#18
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...
March 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
#19
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...
March 2017: Leukemia Research
https://www.readbyqxmd.com/read/28028026/diagnosis-risk-stratification-and-response-evaluation-in-classical-myeloproliferative-neoplasms
#20
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
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