Read by QxMD icon Read

Essential thrombocytosis

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...
October 13, 2016: Annals of Hematology
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
Ankit Sharma
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
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
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
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
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
Mehmet Sevki Uyanik, Mehmet Baysal, Gulsum Emel Pamuk, Muhammet Maden, Mustafa Akker, Elif Gulsum Umit, Muzaffer Demir, Erkan Aydogdu
The most common genetic disorder in Philadelphia negative chronic myeloproliferative neoplasms is the JAK2-V617F mutation. In the present study, we aimed to determine risk factors for thrombosis in patients with essential thrombocytosis and polycythemia vera. We screened the medical records of 101 patients. Risk factors which may predict thrombosis were recorded. Venous thrombosis (VT) before diagnosis was significantly higher in JAK2 positive patients. VT after diagnosis was similar in JAK2 positive and negative groups, and was significantly higher in elderly patients...
September 2016: Indian Journal of Hematology & Blood Transfusion
Rüdiger E Scharf
Thrombocytosis is a frequent laboratory finding but not a diagnosis. Therefore, elevated platelet counts (>450 x 10(9)/l) require careful diagnostic work-up to differentiate between reactive thrombocytosis (RT), caused by various conditions, and essential thrombocythemia (ET), a myeloproliferative neoplasm (MPN). In either setting, aspirin is widely used in clinical practice. However, RT (even at platelet counts >1000 x 10(9)/l) has never been shown to cause thrombosis or bleeding due to acquired von Willebrand factor defects in association with high platelet counts...
July 14, 2016: Hämostaseologie
Anirban Ganguli, Ramandeep Singh Chalokia, Brahm Jyot Kaur
Primary myelofibrosis (PMF) is a rare hematological disorder associated with progressive cytopenia and extra-medullary hematopoiesis. Acute kidney injury in this disease has been reported from diverse etiologies such as renal and peri-renal extramedullary hematopoiesis and tumor lysis syndrome. We report a patient who presented with obstructive uropathy from uric acid stones who was incidentally diagnosed with PMF during workup for persistent thrombocytosis and leukocytosis. Marrow histopathology was unique in presenting features of early PMF despite clinical picture mimicking essential thrombocythemia...
June 2016: Indian Journal of Hematology & Blood Transfusion
Krisstina Gowin, Maria Coakley, Heidi Kosiorek, Ruben Mesa
No abstract text is available yet for this article.
June 27, 2016: Haematologica
Katia Borgia Barbosa Pagnano, Márcia Torresan Delamain, Mariana Munari Magnus, José Vassallo, Carmino Antonio DE Souza, Daiane DE Almeida, Irene Lorand-Metze
The association of chronic myeloid leukemia (CML) with other myeloproliferative neoplasms (MPNs), in particular with the V617F mutation in the Janus kinase 2 (JAK2) gene, is very uncommon, and there are only a few cases reported in the literature. In the present study, the case of a 73-year-old man with CML and persistent thrombocytosis, is reported. The patient achieved a complete cytogenetic response and major molecular response (MR) with imatinib. The patient presented JAK2 V617F mutation, and bone marrow morphology was consistent with essential thrombocythemia...
July 2016: Oncology Letters
Marvinia Charles, Romy Fontoura, Gregory Sugalski
Thrombocytosis is frequently encountered as an incidental laboratory finding since isolated thrombocytosis is often asymptomatic. Even though thrombocytosis is benign and self-limiting in most cases, it can at times result in thrombosis or hemorrhage. The most common type of thrombocytosis is reactive (secondary) thrombocytosis and can be due to infections, trauma, surgery, or occult malignancy. Since thrombocytosis is a known risk factor for thrombosis, it is commonly a concern for ischemic stroke and myocardial infarction...
2016: Open Access Emergency Medicine: OAEM
Vanja Zeremski, Aleksandar Savić, Tatjana Ilić, Ivana Milosević, Marina Maksimović, Biljana Vucković
INTRODUCTION: A high platelet count, or thrombocytosis, is either a reactive process or a result of a myeloproliferative disorder. Ankylosing spondylitis is a chronic inflammatory rheumatic disease affecting the spine and sometimes peripheral joints in which reactive mild to moderate thrombocytosis is a common finding. There have been no previously reported cases of essential thrombocythemia associated with ankylosing spondylitis. CASE OUTLINE: We report a case of a 32-year-old man with human leukocyte antigen B27-positive ankylosing spondylitis and Janus kinase 2-positive essential thrombocythemia who was treated first with a combination of anagrelide and disease-modifying antirheumatic drugs and, after liver toxicity, with a combination of anagrelide and etanercept (TNF-α antagonist)...
January 2016: Srpski Arhiv za Celokupno Lekarstvo
Irene Bertozzi, Edoardo Peroni, Giacomo Coltro, Giulia Bogoni, Elisabetta Cosi, Claudia Santarossa, Fabrizio Fabris, Maria L Randi
BACKGROUND: True essential thrombocythemia (ET) may carry one of the known driver mutations (JAK2, MPL and CALR) or none of them [in triple-negative (3NEG) cases]. The patients' mutational status seems to delineate the clinical manifestations of ET. MATERIALS AND METHODS: We report the data of 183 patients diagnosed with ET strictly according to the WHO 2008 criteria and with a full molecular diagnosis, including the following: 114 patients (62·3%) with JAK2V617F; 25 (13·7%) with CALR type 1 and 19 (10·4%) with CALR type 2; 3 (1·6%) with MPL; 22 (12%) who were 3NEG...
August 2016: European Journal of Clinical Investigation
Alberto Alvarez-Larrán, Arturo Pereira, Paola Guglielmelli, Juan Carlos Hernández-Boluda, Eduardo Arellano-Rodrigo, Francisca Ferrer-Marín, Alimam Samah, Martin Griesshammer, Ana Kerguelen, Bjorn Andreasson, Carmen Burgaleta, Jiri Schwarz, Valentín García-Gutiérrez, Rosa Ayala, Pere Barba, María Teresa Gómez-Casares, Chiara Paoli, Beatrice Drexler, Sonja Zweegman, Mary F McMullin, Jan Samuelsson, Claire Harrison, Francisco Cervantes, Alessandro M Vannucchi, Carlos Besses
The role of antiplatelet therapy as primary prophylaxis of thrombosis in low-risk essential thrombocythemia has not been studied in randomized clinical trials. We assessed the benefit/risk of low-dose aspirin in 433 patients with low-risk essential thrombocythemia (271 with a CALR mutation, 162 with a JAK2(V617F) mutation) who were on antiplatelet therapy or observation only. After a follow up of 2215 person-years free from cytoreduction, 25 thrombotic and 17 bleeding episodes were recorded. In CALR-mutated patients, antiplatelet therapy did not affect the risk of thrombosis but was associated with a higher incidence of bleeding (12...
August 2016: Haematologica
Marianna Politou, Serena Valsami, Irontianta Gkorezi-Ntavela, Vasilios Telonis, Efrosyni Merkouri, Panagiotis Christopoulos
Essential thrombocytosis (ET) and FV Leiden heterozygosity represent an acquired and hereditable hypercoagulable state, respectively. An uncommon case of coexistence of ET and FV Leiden heterozygosity in a 36-year-old pregnant woman and her successful pregnancy outcome is described. She was considered to be at high risk of thrombosis during her pregnancy and she was treated with both prophylactic dose of LMWH and aspirin daily throughout her pregnancy and for a 6-week period postpartum. The efficacy of the anticoagulation treatment was monitored in various time points not only by measuring anti-Xa levels and D-Dimers but also with new coagulation methods such as rotation thromboelastometry and multiplate...
2016: Case Reports in Obstetrics and Gynecology
Sinem Namdaroğlu, Emre Tekgündüz, Fevzi Altuntaş
Essential thrombocythemia (ET) is a Philadelphia chromosome (Ph)-negative myeloproliferative neoplasm. It is characterized by thrombocytosis and megakaryocytic hyperplasia of the bone marrow with JAK2V617F mutation. Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder, which is mainly characterized by iron deficiency anemia not responding to oral iron intake, but partially responding to parenteral iron therapy. Recently, it has been shown that IRIDA has stemmed from mutations in the gene TMPRSS6, which encodes a transmembrane serine protease (matriptase-2) expressed by the liver...
March 17, 2016: Hematology Reports
Nya D Nelson, Andrea Marcogliese, Katie Bergstrom, Michael Scheurer, Donald Mahoney, Alison A Bertuch
JAK2, MPL, and CALR mutations, which underlie essential thrombocythemia (ET) in most adults, are infrequent in children. Consequently, additional tests are needed to confirm pediatric ET diagnoses. We report a child with suspected ET and normal JAK2, MPL, and CALR analyses. Serum thrombopoietin (TPO) was markedly elevated, leading to analysis of the TPO gene, TPHO, which contains an upstream open reading frame (uORF) known to repress THPO translation. Sequencing revealed a de novo, germline stopgain mutation in the uORF, explaining the elevated TPO and thrombocytosis...
August 2016: Pediatric Blood & Cancer
Yona Nadir, Benjamin Brenner
Heparanase is an endo-β-D-glucuronidase that is capable of cleaving heparan sulfate side chains of heparan sulfate proteoglycans on cell surfaces and the extracellular matrix. This activity is strongly implicated in tumor metastasis and angiogenesis. We have earlier demonstrated that apart of its well characterized enzymatic activity, heparanase may also affect the hemostatic system in a non-enzymatic manner. We showed that heparanase up-regulated the expression of the blood coagulation initiator-tissue factor (TF) and interacted with the tissue factor pathway inhibitor (TFPI) on the cell surface membrane of endothelial and tumor cells, leading to dissociation of TFPI and resulting in increased cell surface coagulation activity...
April 2016: Thrombosis Research
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"