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Essential thrombocytosis

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https://www.readbyqxmd.com/read/29675946/plasma-proteomics-identifies-a-chemokine-storm-in-idiopathic-multicentric-castleman-disease
#1
Sheila K Pierson, Aaron J Stonestrom, Dustin Shilling, Jason Ruth, Christopher S Nabel, Amrit Singh, Yue Ren, Katie Stone, Hongzhe Li, Frits van Rhee, David C Fajgenbaum
Human Herpesvirus-8 (HHV-8)-negative/idiopathic multicentric Castleman disease (iMCD) is a poorly understood disease involving polyclonal lymphoproliferation with dysmorphic germinal centers, constitutional symptoms, and multi-organ failure. Patients can experience thrombocytopenia, anasarca, reticulin fibrosis, renal dysfunction, organomegaly, and normal immunoglobulin levels, - iMCD-TAFRO. Others experience thrombocytosis, milder effusions, and hypergammaglobulinemia, -iMCD-Not Otherwise Specified (iMCD-NOS)...
April 20, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29668550/pediatric-chronic-myeloid-leukemia-presenting-with-extreme-thrombocytosis-simulating-essential-thrombocythemia
#2
Jessica L Boklan, Alexandra M Walsh, Michelina C de la Maza, Leon L Su, Francisco A Nizzi, Kristian T Schafernak
A 10-year-old boy presented with spontaneous bruising and was found to have extreme thrombocytosis without neutrophilia/shift to immaturity, basophilia or eosinophilia. While the peripheral blood and bone marrow findings initially suggested essential thrombocythemia, BCR-ABL1 translocation was detected and chronic myeloid leukemia, chronic phase, was diagnosed. Apheresis for platelet depletion was performed as a bridge given the delayed effects of medical therapy.
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29656438/renovascular-hypertension-associated-with-jak2-v617f-positive-myeloproliferative-neoplasms-treated-with-angioplasty-2-cases-and-literature-review
#3
Eikan Mishima, Takehiro Suzuki, Yoichi Takeuchi, Kazumasa Seiji, Noriko Fukuhara, Kei Takase, Hideo Harigae, Takaaki Abe, Sadayoshi Ito
Myeloproliferative neoplasms (MPNs) with Janus kinase 2 (JAK2) mutation are associated with a high risk for occlusive vascular diseases. We report 2 cases of renovascular hypertension associated with JAK2 V617F mutation-positive MPNs and provide a literature review. In Case 1, a 63-year-old woman had resistant hypertension, massive proteinuria, and erythrocytosis. Evaluations revealed right renal artery stenosis causing renovascular hypertension and polycythemia vera with JAK2 V617F mutation. Renin-angiotensin system inhibitors and subsequent angioplasty controlled the blood pressure and the proteinuria resolved...
April 14, 2018: Journal of Clinical Hypertension
https://www.readbyqxmd.com/read/29602892/essential-thrombocytosis-40-years-after-splenectomy
#4
Oliver Neuhaus, Gabriele Käfer
No abstract text is available yet for this article.
March 30, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29515972/genetic-alterations-in-essential-thrombocythemia-progression-to-acute-myeloid-leukemia-a-case-series-and-review-of-the-literature
#5
Jackline P Ayres-Silva, Martin H Bonamino, Maria E Gouveia, Barbara C R Monte-Mor, Diego F Coutinho, Adelmo H Daumas, Cristiana Solza, Esteban Braggio, Ilana Renault Zalcberg
The genetic events associated with transformation of myeloproliferative neoplasms (MPNs) to secondary acute myeloid leukemia (sAML), particularly in the subgroup of essential thrombocythemia (ET) patients, remain incompletely understood. Deep studies using high-throughput methods might lead to a better understanding of genetic landscape of ET patients who transformed to sAML. We performed array-based comparative genomic hybridization (aCGH) and whole exome sequencing (WES) to analyze paired samples from ET and sAML phases...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29508552/coexistence-of-jak2-or-calr-mutation-is-a-rare-but-clinically-important-event-in-chronic-myeloid-leukemia-patients-treated-with-tyrosine-kinase-inhibitors
#6
K Lewandowski, M Gniot, M Wojtaszewska, Z Kanduła, R Becht, E Paczkowska, E Mędraś, E Wasilewska, M Iwoła
INTRODUCTION: There are 7 designated conditions under the category of myeloproliferative neoplasms (MPN), including chronic myelogenous leukemia (CML) and classical MPN, that is, polycythemia vera (PV), essential thrombocythaemia (ET), and primary myelofibrosis (PMF). Recently, reports about Philadelphia and JAK2 V617F-positive MPN cases have been described in literature. The coexistence of different molecular defects may change the clinical and laboratory manifestation of MPN and may result in an inappropriate interpretation of the response to treatment with tyrosine kinase inhibitors in CML patients...
March 6, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29492207/evaluation-of-vascular-events-in-patients-with-myeloproliferative-syndromes-and-mutations-of-either-the-januskinase-2-or-calreticulin-gene-at-the-university-hospital-krems-from-2008-to-2015
#7
Sarah Hintermair, Elisabeth Zwickl-Traxler, Martin Pecherstorfer, Josef Singer
Myeloproliferative neoplasms (MPN), classified as polycythemia vera (PV), essential thrombocytosis (ET) and myelofibrosis (MF) are stem-cell derived disorders. Mutations in either the januskinase-2 (JAK-2) or the calreticulin (CALR) gene are characteristic for MPN and may result in enhanced proliferation of red blood cells, white blood cells and platelets, and thus increase the risk for vascular events. This study is a retrospective and descriptive analysis of records of patients, who underwent treatment for myeloproliferative syndromes at the Department of Hemato-Oncology of the University hospital Krems from 2008 to the end of 2015...
February 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29472808/pseudohyperkalemia-potassium-released-from-cells-due-to-clotting-and-centrifugation-a-case-report
#8
REVIEW
Tomáš Šálek
Hyperkalemia is a potentially lethal condition. Pseudohyperkalemia should be always excluded before implementing treatment to prevent inappropriate cause of hypokalemia - equally a potentially lethal condition. Here we present a case report of a 62 year female with chronic myeloproliferative disorder, i.e. essential thrombocythemia. The laboratory test results for potassium concentration were 6.3 mmol/L, for platelet count 1305 x109 /L and for leukocyte count 39.8 x109 /L. This was due to a temporary drug withdrawal after a surgical intervention for gastric bleeding...
February 15, 2018: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/29442537/once-versus-twice-daily-aspirin-treatment-in-patients-with-essential-thrombocytosis
#9
Mads Lamm Larsen, Oliver Heidmann Pedersen, Anne-Mette Hvas, Peter Buur van Kooten Niekerk, Søren Bønløkke, Steen Dalby Kristensen, Erik Lerkevang Grove
Insufficient platelet inhibition has been reported in up to 40% of aspirin-treated patients, including patients with essential thrombocytosis. To maintain sufficient platelet inhibition, a shorter dosing interval with aspirin has been suggested. We aimed to investigate the antiplatelet effect of low-dose aspirin given twice-daily compared to standard once-daily dosing in patients with essential thrombocytosis. We included 22 patients, who were treated for 7 days with standard once-daily aspirin (75 mg once-daily) followed by 7 days treatment of twice-daily aspirin (37...
February 14, 2018: Platelets
https://www.readbyqxmd.com/read/29420626/integrated-micro-messenger-rna-regulatory-networks-in-essential-thrombocytosis
#10
Lu Zhao, Song Wu, Erya Huang, Dimitri Gnatenko, Wadie F Bahou, Wei Zhu
Essential thrombocytosis (ET) is a chronic myeloproliferative disorder with an unregulated surplus of platelets. Complications of ET include stroke, heart attack, and formation of blood clots. Although platelet-enhancing mutations have been identified in ET cohorts, genetic networks causally implicated in thrombotic risk remain unestablished. In this study, we aim to identify novel ET-related miRNA-mRNA regulatory networks through comparisons of transcriptomes between healthy controls and ET patients. Four network discovery algorithms have been employed, including (a) Pearson correlation network, (b) sparse supervised canonical correlation analysis (sSCCA), (c) sparse partial correlation network analysis (SPACE), and, (d) (sparse) Bayesian network analysis-all through a combined data-driven and knowledge-based analysis...
2018: PloS One
https://www.readbyqxmd.com/read/29411299/a-rare-calr-variant-mutation-and-a-review-of-calr-in-essential-thrombocythemia
#11
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
#12
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/29397849/-variation-and-clinical-significance-of-lnk-gene-in-essential-thrombocytosis
#13
Run-Mei Tian, Ying Rong, Liu-Song Wu, Yan Jiang, Hai-Yan Qing, Ping Zhu, Yan Chen
OBJECTIVE: To explore the mutation and single nucleotide polymorphism(SNP) of LNK gene in the patients with essential thrombocytosis (ET), and to analyze the relationship between LNK gene variation and the occurrence of ET. METHODS: JAK2V617F mutation was identified by allele-specific PCR. The whole exon of LNK gene was amplified by PCR. The amplified sequences included the Rs3184504 (C/T) and Rs78894077 (A/C/G/T) affecting the expression of amino acids in LNK gene, and the Rs7973120 (A/T) unaffecting the expression of amino acids...
February 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29381999/abdominal-surgery-in-patients-with-essential-thrombocythemia-a-case-report-and-systematic-review-of-literature
#14
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/29296879/buccal-epithelial-cells-display-somatic-bone-marrow-derived-calr-mutation
#15
Scott R Gilles, Linda B Baughn, Matthew L Schomaker, Elizabeth L Courville, Andrew C Nelson, Zohar Sachs
Buccal epithelial cells harbor an MPN-associated CALR mutation in a patient with CALR -mutant essential thrombocytosis, Ph+ CML, and no germ line CALR mutation.
November 28, 2017: Blood Advances
https://www.readbyqxmd.com/read/29282219/mutant-calreticulin-knockin-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 +1-bp frameshift and generate a novel protein C terminus. In this study, we generated a conditional mouse knockin model of the most common CALR mutation, a 52-bp 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...
February 8, 2018: Blood
https://www.readbyqxmd.com/read/29225675/pregnancy-and-myeloproliferative-neoplasms-a-retrospective-monocentric-cohort
#17
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/29217833/calr-mutational-status-identifies-different-disease-subtypes-of-essential-thrombocythemia-showing-distinct-expression-profiles
#18
Roberta Zini, Paola Guglielmelli, Daniela Pietra, Elisa Rumi, Chiara Rossi, Sebastiano Rontauroli, Elena Genovese, Tiziana Fanelli, Laura Calabresi, Elisa Bianchi, Simona Salati, Mario Cazzola, Enrico Tagliafico, Alessandro M Vannucchi, Rossella Manfredini
Polycythemia vera (PV) and essential thrombocythemia (ET) are Philadelphia-negative myeloproliferative neoplasms (MPNs) characterized by erythrocytosis and thrombocytosis, respectively. Approximately 95% of PV and 50-70% of ET patients harbor the V617F mutation in the exon 14 of JAK2 gene, while about 20-30% of ET patients carry CALRins5 or CALRdel52 mutations. These ET CALR-mutated subjects show higher platelet count and lower thrombotic risk compared to JAK2-mutated patients. Here, we showed that CALR-mutated and JAK2V617F-positive CD34+ cells display different gene and miRNA expression profiles...
December 8, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/29166742/-allogeneic-hematopoietic-stem-cell-transplantation-for-the-treatment-of-acute-myeloid-leukemia-with-primary-thrombocytosis-three-cases-report-and-literatures-review
#19
X P Zong, L Tang, J N Cen, S N Chen, A N Sun, D P Wu
Objective: To investigate the characteristics of the essential thrombocythemia (ET) cases transformed to the acute myeloid leukemia (AML) and the role of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in the treatment of this disease. Methods: The clinical and laboratory characteristics of 3 ET cases before and after transformation and after allo-HSCT were retrospectively analyzed, meanwhile the related literatures were reviewed and discussed. Results: Case 1 was a male patient of 44 years old, whose PLT was 500×10(9)/L when firstly diagnosed ET...
October 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29145678/-thrombocytosis-and-thrombocytopenia-background-and-clinical-relevance
#20
REVIEW
Kai Wille, Parvis Sadjadian, Martin Griesshammer
Due to the central role of platelets in hemostasis, the clinical relevance of quantitative changes in platelet counts (< 150 G/l or > 450 G/l) may be significant. Thrombopoesis (= production of platelets) occurs in the bone marrow, and the hormone thrombopoetin takes control on its regulation.In thrombocytosis, primary causes have to be distinguished from the far more common reactive (= secondary) reasons. The most important form of primary thrombocytosis occurs in myeloproliferative neoplasms especially in essential thrombocythemia (ET)...
November 2017: Deutsche Medizinische Wochenschrift
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