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Thrombocythemia

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https://www.readbyqxmd.com/read/29427319/distinguishing-myelofibrosis-from-polycythemia-vera-and-essential-thrombocythemia-the-utility-of-enumerating-circulating-stem-cells-with-aberrant-hmicl-expression-by-flow-cytometry
#1
L L Herborg, L Nederby, H C Hasselbalch, A Aggerholm, A S Roug
INTRODUCTION: Diagnosing BCR-ABL negative myeloproliferative neoplasms (MPN) may be challenging due to overlapping features and lack of robust discriminatory parameters, especially between essential thrombocythemia (ET) and prefibrotic myelofibrosis (MF). Circulating immature hematopoietic cells are variably present in polycythemia vera (PV), ET, and MF. The C-type lectin hMICL is aberrantly expressed on hematopoietic stem cells in the majority of acute myeloid leukemia patients. However, the hMICL expression in MPN, having varying propensity of leukemic transformation, is unsettled...
February 10, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29426921/the-2016-who-classification-and-diagnostic-criteria-for-myeloproliferative-neoplasms-document-summary-and-in-depth-discussion
#2
REVIEW
Tiziano Barbui, Jürgen Thiele, Heinz Gisslinger, Hans Michael Kvasnicka, Alessandro M Vannucchi, Paola Guglielmelli, Attilio Orazi, Ayalew Tefferi
The new edition of the 2016 World Health Organization (WHO) classification system for tumors of the hematopoietic and lymphoid tissues was published in September 2017. Under the category of myeloproliferative neoplasms (MPNs), the revised document includes seven subcategories: chronic myeloid leukemia, chronic neutrophilic leukemia, polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), chronic eosinophilic leukemia-not otherwise specified and MPN, unclassifiable (MPN-U); of note, mastocytosis is no longer classified under the MPN category...
February 9, 2018: Blood Cancer Journal
https://www.readbyqxmd.com/read/29411299/a-rare-calr-variant-mutation-and-a-review-of-calr-in-essential-thrombocythemia
#3
Robert Diep, Ara Metjian
Essential thrombocythemia (ET) is an indolent myeloproliferative neoplasm characterized by megakaryocyte hyperplasia, thrombocytosis, thrombotic and hemorrhagic complications, and potential transformation into myelofibrosis and acute myeloid leukemia. The vast majority of cases are driven by a somatic mutation in JAK2, CALR, or MPL. CALR, a gene that codes for the calcium-binding chaperone calreticulin, is the predominant mutation in patients with non-mutated JAK2 essential thrombocythemia, accounting for 20-25% of the overall somatic mutation frequency in ET...
February 6, 2018: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/29405428/the-2014-bcsh-criteria-and-the-2016-who-criteria-for-essential-thrombocythemia-a-comparison-in-a-large-scale-cohort
#4
Tomonori Ochiai, Hajime Yasuda, Marito Araki, Kyohei Misawa, Soji Morishita, Mai Nudejima, Yumi Hironaka, Shuichi Shirane, Yoko Edahiro, Akihiko Gotoh, Akimichi Ohsaka, Norio Komatsu
OBJECTIVE: There are currently two representative diagnostic criteria for essential thrombocythemia (ET), the 2014 British Committee for Standards in Hematology Guidelines (BCSH) criteria and the 2016 World Health Organization (WHO) criteria. We compare and discuss the advantages and disadvantages of the two criteria. METHOD: We applied the two criteria to 403 patients with thrombocytosis and suspected myeloproliferative neoplasms (MPN) and compared patient populations...
February 5, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29397860/-advances-in-pathogenesis-of-essential-thrombocythemia-review
#5
Dian Zhou, Wei Chen, Kai-Lin Xu
Essential thrombocythemia(ET) is one of the Ph chromosome-negative myeloproliferative neoplasms. Some studies discovered that the mutation of JAK2 V617F existed in 50%-70% patients with ET. Recently, many significant advances in researches about pathogenesis of ET, such as mutations of JAK2V617F, MPL, CALR and other related mutation; the epigenetic abnomalities in incidence of ET; the changes of bone marrow microenvironment of ET and the regulation of related cytokines were obtained. In this article, the advances of above mentioned aspects of ET are summarized...
February 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29390868/selected-parameters-of-angiogenesis-and-the-jak2-calr-and-mpl-mutations-in-patients-with-essential-thrombocythemia
#6
Grażyna Gadomska, Alicja Bartoszewska-Kubiak, Joanna Boinska, Karolina Matiakowska, Katarzyna Ziołkowska, Olga Haus, Danuta Rość
The aim of the study was to evaluate selected angiogenic factors in patients with essential thrombocythemia (ET) depending on JAK2V617F, calreticulin gene (CALR) and myeloproliferative leukemia virus oncogene (MPL) mutations. Sixty ET patients and 20 healthy volunteers were enrolled in the study. The following tests were performed: vascular endothelial growth factor- A (VEGF-A), soluble vascular endothelial growth factor receptor-1 (sVEGFR-1),soluble vascular endothelial growth factor receptor-2 (sVEGFR-2), platelet-derived growth factor( PDGF-BB), and stromal-derived factor-1α (SDF-1α)...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29381999/abdominal-surgery-in-patients-with-essential-thrombocythemia-a-case-report-and-systematic-review-of-literature
#7
Yi Zhu, HongGang Jiang, ZhiHeng Chen, BoHao Lu, JiaMing Wu
INTRODUCTION: Essential thrombocythemia/thrombocytosis (ET) is characterized by increased bleeding and thrombosis risk during the perioperative period. We report the case of a woman with ET and sigmoid colon cancer, in whom the postoperative course was complicated by anastomotic bleeding. A systematic review was conducted to seek guidance for the management of such patient in the perioperative period. METHODS: A systematic literature review was conducted using EMBASE, Medline, and PubMed databases to detect relevant English language articles...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29377227/lymphoproliferative-disorders-in-patients-with-chronic-myeloproliferative-neoplasms-a-systematic-review
#8
Monia Marchetti, Alessandra Carobbio, Enrica Capitoni, Tiziano Barbui
Patients with a Ph-negative myeloproliferative neoplasm (MPN) may harbor or develop lymphoproliferative disorders (LPD), however, the clinical and molecular determinants of MPN and LPD co-occurrence are still uncertain. In order to systematically pool the available knowledge, we conducted a scoping review of literature published since January 2005 and analyzed single-patient clinical data from 50 papers reporting 214 individuals harboring both MPN and LPD. Patients had been diagnosed essential thrombocythemia (44%), polycythemia vera (29%) or myelofibrosis (23%) at a median age of 67 years (26-94): half of them incurred a LPD after a median of 72 months from MPN diagnosis, while in 20% the LPD diagnosis was antecedent or synchronous...
January 27, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29344542/ruxolitinib-for-essential-thrombocythemia
#9
EDITORIAL
Prithviraj Bose, Srdan Verstovsek
No abstract text is available yet for this article.
November 2017: Oncoscience
https://www.readbyqxmd.com/read/29332224/phosphatidylserine-exposing-blood-and-endothelial-cells-contribute-to-the-hypercoagulable-state-in-essential-thrombocythemia-patients
#10
Dongxia Tong, Muxin Yu, Li Guo, Tao Li, Jihe Li, Valerie A Novakovic, Zengxiang Dong, Ye Tian, Junjie Kou, Yayan Bi, Jinghua Wang, Jin Zhou, Jialan Shi
The mechanisms of thrombogenicity in essential thrombocythemia (ET) are complex and not well defined. Our objective was to explore whether phosphatidylserine (PS) exposure on blood cells and endothelial cells (ECs) can account for the increased thrombosis and distinct thrombotic risks among mutational subtypes in ET. Using flow cytometry and confocal microscopy, we found that the levels of PS-exposing erythrocytes, platelets, leukocytes, and serum-cultured ECs were significantly higher in each ET group [JAK2, CALR, and triple-negative (TN) (all P < 0...
January 13, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29323541/development-of-a-targeted-next-generation-sequencing-assay-to-detect-diagnostically-relevant-mutations-of-jak2-calr-and-mpl-in-myeloproliferative-neoplasms
#11
Thomas Frawley, Cathal P O'Brien, Eibhlin Conneally, Elisabeth Vandenberghe, Melanie Percy, Stephen E Langabeer, Karl Haslam
BACKGROUND: The classical Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), consisting of polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a heterogeneous group of neoplasms that harbor driver mutations in the JAK2, CALR, and MPL genes. The detection of these mutations has been incorporated into the recent World Health Organization (WHO) diagnostic criteria for MPN. Given a pressing clinical need to screen for these mutations in a routine diagnostic setting, a targeted next-generation sequencing (NGS) assay for the detection of MPN-associated mutations located in JAK2 exon 14, JAK2 exon 12, CALR exon 9, and MPL exon 10 was developed to provide a single platform alternative to reflexive, stepwise diagnostic algorithms...
January 11, 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29321520/essential-thrombocythemia-treatment-algorithm-2018
#12
REVIEW
Ayalew Tefferi, Alessandro M Vannucchi, Tiziano Barbui
Current drug therapy for myeloproliferative neoplasms, including essential thrombocythemia (ET) and polycythemia vera (PV), is neither curative nor has it been shown to prolong survival. Fortunately, prognosis in ET and PV is relatively good, with median survivals in younger patients estimated at 33 and 24 years, respectively. Therefore, when it comes to treatment in ET or PV, less is more and one should avoid exposing patients to new drugs that have not been shown to be disease-modifying, and whose long-term consequences are suspect (e...
January 10, 2018: Blood Cancer Journal
https://www.readbyqxmd.com/read/29313725/prognostic-risk-model-for-patients-with-high-risk-polycythemia-vera-and-essential-thrombocythemia
#13
Abhishek A Mangaonkar, Katherine P Hoversten, Naseema Gangat
Polycythemia Vera (PV) and Essential Thrombocythemia (ET) are the most frequent Philadelphia chromosome-negative myeloproliferative neoplasms, the other entity being myelofibrosis. Management of patients with PV and ET is fraught with difficulties as they have an inherent tendency to cause thrombotic and hemorrhagic events. There are no curative treatment options, therefore it is important that a risk-adapted treatment approach is applied. Areas covered: This review discusses existing literature about prognosis in PV and ET, and addresses critical aspects related to defining 'high-risk' disease...
January 20, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29306106/quantitative-assessment-of-jak2-v617f-and-calr-mutations-in-philadelphia-negative-myeloproliferative-neoplasms
#14
Ambrus Gángó, Réka Mózes, Zsófia Boha, Béla Kajtár, Botond Timár, Péter Attila Király, Richárd Kiss, Viktória Fésüs, Noémi Nagy, Judit Demeter, Gábor Körösmezey, Zita Borbényi, Imelda Marton, Anita Szőke, Tamás Masszi, Péter Farkas, Judit Várkonyi, Márk Plander, Éva Pósfai, Miklós Egyed, Katalin Pál, Gáspár Radványi, Aryan Hamed, Judit Csomor, András Matolcsy, Donát Alpár, Csaba Bödör
BACKGROUND: Philadelphia negative myeloproliferative neoplasms (MPNs) are characterized by frequent mutations of driver genes including JAK2, CALR and MPL. While the influence of JAK2 V617F mutant allele burden on the clinical phenotype of MPN patients is well-described, the impact of CALR mutant allele burden on clinical features needs further investigation. PATIENTS AND METHODS: Quantitative assessment of JAK2 and CALR mutations was performed on diagnostic DNA samples from 425 essential thrombocythemia (ET) and 227 primary myelofibrosis patients using real-time quantitative PCR and fragment length analysis...
January 2, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29290077/efficacy-and-safety-of-interferon-alpha-for-essential-thrombocythemia-during-pregnancy-two-cases-and-a-literature-review
#15
Kazuya Sakai, Akane Ueda, Masaaki Hasegawa, Yasunori Ueda
For pregnant women with essential thrombocythemia (ET), no standard approach for managing the platelet count has been established. We present the cases of two pregnant women with ET treated with interferon (IFN)-alpha. Each case showed a marked platelet decrease, from values within normal limits at the time of delivery, with no severe adverse events. To clarify the efficacy and safely of IFN alpha for ET during pregnancy, we performed a literature review. A total of 43 pregnant women with ET were ultimately identified from 12 articles and the present cases...
December 30, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/29282219/mutant-calreticulin-knock-in-mice-develop-thrombocytosis-and-myelofibrosis-without-a-stem-cell-self-renewal-advantage
#16
Juan Li, Daniel Prins, Hyun Jung Park, Jacob Grinfeld, Carlos Gonzalez-Arias, Stephen Loughran, Oliver M Dovey, Thorsten Klampfl, Cavan Bennett, Tina L Hamilton, Dean C Pask, Rachel Sneade, Matthew Williams, Juliet Aungier, Cedric Ghevaert, George S Vassiliou, David G Kent, Anthony R Green
Somatic mutations in the endoplasmic reticulum chaperone calreticulin (CALR) are detected in approximately 40% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). Multiple different mutations have been reported, but all result in a +1bp frame shift and generate a novel protein C-terminus. In this study, we generated a conditional mouse knock-in model of the most common CALR mutation, a 52bp deletion. The mutant novel human C-terminal sequence is integrated into the otherwise intact mouse CALR gene and results in mutant CALR expression under the control of the endogenous mouse locus...
December 27, 2017: Blood
https://www.readbyqxmd.com/read/29277359/soho-state-of-the-art-update-and-next-questions-mpn
#17
REVIEW
Prithviraj Bose, Jason Gotlib, Claire N Harrison, Srdan Verstovsek
The discovery of the activating Janus kinase (JAK)2V617F mutation in 2005 in most patients with the classic Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) spurred intense interest in research into these disorders, culminating in the identification of activating mutations in MPL in 2006 and indels in the gene encoding calreticulin (CALR) in 2013, thus providing additional mechanistic explanations for the universal activation of JAK-signal transducer and activator of transcription (JAK-STAT) observed in these conditions, and the success of the JAK1/2 inhibitor ruxolitinib, which first received regulatory approval in 2011...
January 2018: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29226426/significance-of-thrombocytopenia-in-patients-with-primary-and-post-essential-thrombocythemia-polycythemia-vera-myelofibrosis
#18
Lucia Masarova, Ahmad Alhuraiji, Prithviraj Bose, Naval Daver, Naveen Pemmaraju, Jorge Cortes, Sherry Pierce, Hagop Kantarjian, Srdan Verstovsek
Severe thrombocytopenia (platelets <50 x109 /L) is associated with very poor outcome of patients with myelofibrosis (MF). Since patients with primary myelofibrosis (PMF) differ from patients with post-essential thrombocythemia (PET-MF) and post-polycythemia vera myelofibrosis (PPV-MF), we aimed to evaluate the significance of low platelets among these patients. We present clinical characteristics and outcome of patients with either PMF, PPV-MF, or PET-MF, and thrombocytopenia who presented to our institution between 1984 and 2015...
December 11, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29225675/pregnancy-and-myeloproliferative-neoplasms-a-retrospective-monocentric-cohort
#19
Mathieu Puyade, Emilie Cayssials, Fabrice Pierre, Olivier Pourrat
Background: The most frequent myeloproliferative neoplasms are essential thrombocythemia and chronic myelogenous leukemia, which usually manifests with thrombocytosis. Only essential thrombocythemia is associated with morbidity during pregnancy (recurrent miscarriages, intrauterine fetal death, small for gestational age and preeclampsia). The aim of this paper is to describe outcomes of pregnancy in women with myeloproliferative neoplasms seen at a single academic institution. Methods: Data were collected retrospectively from 2002 to 2015...
December 2017: Obstetric Medicine
https://www.readbyqxmd.com/read/29222296/what-are-the-current-treatment-approaches-for-patients-with-polycythemia-vera-and-essential-thrombocythemia
#20
REVIEW
Alessandro M Vannucchi, Paola Guglielmelli
Polycythemia vera (PV) and essential thrombocythemia (ET) are chronic myeloproliferative neoplasms that are characterized by thrombohemorrhagic complications, symptom burden, and impaired survival mainly due to thrombosis, progression to myelofibrosis, and transformation to acute leukemia. In this manuscript, we will review the most recent changes in diagnostic criteria, the improvements in risk stratification, and the "state of the art" in the daily management of these disorders. The role of conventional therapies and novel agents, interferon α and the JAK2 inhibitor ruxolitinib, is critically discussed based on the results of a few basic randomized clinical studies...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
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