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essential thrombocythaemia

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https://www.readbyqxmd.com/read/29741776/skewed-megakaryopoiesis-in-human-induced-pluripotent-stem-cell-derived-haematopoietic-progenitor-cells-harbouring-calreticulin-mutations
#1
Hiraku Takei, Yoko Edahiro, Shuichi Mano, Nami Masubuchi, Yoshihisa Mizukami, Misa Imai, Soji Morishita, Kyohei Misawa, Tomonori Ochiai, Satoshi Tsuneda, Hiroshi Endo, Sou Nakamura, Koji Eto, Akimichi Ohsaka, Marito Araki, Norio Komatsu
Somatic mutations in the calreticulin (CALR) gene have been found in most patients with JAK2- and MPL-unmutated Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs). It has recently been shown that mutant CALR constitutively activates the thrombopoietin receptor MPL and, thus, plays a causal role in the development of MPNs. However, the roles of mutant CALR in human haematopoietic cell differentiation remain predominantly elusive. To examine the impact of the 5-base insertion mutant CALR gene (Ins5) on haematopoietic cell differentiation, we generated induced pluripotent stem cells from an essential thrombocythaemia (ET) patient harbouring a CALR-Ins5 mutation and from a healthy individual (WT)...
May 9, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29617043/a-novel-type-of-2-base-pair-frameshift-calr-mutation-in-a-patient-with-myeloproliferative-neoplasm
#2
Hyun-Young Kim, Jong-Won Kim, Sun-Hee Kim, Myung Hee Chang, Hee-Jin Kim
Somatic CALR mutations have been identified in the majority of JAK2 mutation-negative essential thrombocythaemia (ET) and primary myelofibrosis. Almost all CALR mutations have been reported to typically generate a +1-base pair (bp) frameshift in the open reading frame. Here, we describe an ET patient with a +2-bp frameshift CALR mutation. A 41-year-old man was admitted because of headache, and diagnosed as JAK2-negative ET. After 4 years, his disease progressed to post-ET myelofibrosis, and CALR mutation analysis demonstrated a +2-bp frameshift CALR mutation caused by two different CALR mutations, c...
April 4, 2018: European Journal of Haematology
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
#3
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/29437800/ventricular-tachyarrhythmia-in-a-78-year-old-woman-with-essential-thrombocythaemia
#4
Mary Rodriguez-Ziccardi, Manolo Rubio, Marvin Lu, Allan Greenspan
Anagrelide is a phosphodiesterase-3 inhibitor used in the treatment of essential thrombocythaemia. Cardiovascular side effects such as ventricular tachycardia and cardiomyopathy are rare but potentially fatal and should be made known to patients before starting the medication. It usually arises within the first 6 months after initiation of therapy and may be dose related. The elderly population are particularly susceptible. These cardiotoxicities result from an increase in cyclic AMP that induces positive inotropic and chronotropic effects and are often reversible with cessation of use...
February 8, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29246923/non-adherence-to-treatment-with-cytoreductive-and-or-antithrombotic-drugs-is-frequent-and-associated-with-an-increased-risk-of-complications-in-patients-with-polycythemia-vera-or-essential-thrombocythemia-ouest-study
#5
Ronan Le Calloch, Karine Lacut, Christelle Le Gall-Ianotto, Emmanuel Nowak, Morgane Abiven, Adrian Tempescul, Florence Dalbies, Jean-Richard Eveillard, Valérie Ugo, Stéphane Giraudier, Gaëlle Guillerm, Eric Lippert, Christian Berthou, Jean-Christophe Ianotto
The purpose of this study was to identify the incidence, causes and impact of non-adherence to oral and subcutaneous chronic treatments for patients with polycythemia vera or essential thrombocythemia. Patients receiving cytoreductive drugs for polycythemia vera or essential thrombocythemia were recruited at our institution ( Observatoire Brestois des Néoplasies Myéloprolifératives registry). They completed a one-shot questionnaire designed by investigators ( Etude de l'Observance Thérapeutique et des Effets Secondaires des Traitements study)...
April 2018: Haematologica
https://www.readbyqxmd.com/read/29191839/shortened-telomeres-in-essential-thrombocythaemia-clinicopathological-and-treatment-correlations
#6
Samah Alimam, Donal P McLornan, Jie Jiang, Deepti Radia, Ghulam J Mufti, Claire N Harrison
No abstract text is available yet for this article.
November 30, 2017: Haematologica
https://www.readbyqxmd.com/read/29134817/the-bcr-abl1-negative-myeloproliferative-neoplasms-a-review-of-jak-inhibitors-in-the-therapeutic-armamentarium
#7
REVIEW
Martin Griesshammer, Parvis Sadjadian
The classical BCR-ABL1-negative myeloproliferative neoplasms (MPN) include primary myelofibrosis (PMF), polycythemia vera (PV) and essential thrombocythemia (ET). They are characterized by stem cell-derived clonal proliferation, harbor Janus kinase 2 (JAK2), or calreticulin (CALR), or myeloproliferative leukemia virus oncogene (MPL) driver mutations and exert an over activated JAK-signal transducer and activator of transcription (STAT) pathway. Therefore JAK inhibiting strategies have been successfully investigated in MPN clinical trials...
December 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29076129/the-mosaicc-study-assessing-feasibility-for-biological-sample-collection-in-epidemiology-studies-and-comparison-of-dna-yields-from-saliva-and-whole-blood-samples
#8
Glen James, Mary Frances McMullin, Andrew S Duncombe, Mike Clarke, Lesley A Anderson
Biological sample collection is becoming more common in epidemiology research to obtain DNA for genetic analysis. There are many different DNA collection methods but little evidence on their relative effectiveness. Therefore, we took the opportunity of a prospective case-control study in myeloproliferative neoplasms (MPNs) to compare DNA yield from 8.5 mL PAXgene tubes for whole blood collection versus 2 mL Oragene OG-500 saliva collection kits. MPNs include polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis...
March 2018: Annals of Human Genetics
https://www.readbyqxmd.com/read/29019736/clinical-and-laboratory-assessment-of-a-patient-with-thrombocytosis
#9
Niamh Appleby, Daniel Angelov
Elevated platelet counts are frequently encountered in hospital medicine and arise from both physiological and pathological mechanisms. Thrombocytosis may be secondary, reflecting an inflammatory state, iron deficiency, recent surgery or point towards an underlying neoplasm. Thrombocytosis may be the presenting sign of solid tumours and haematological conditions. The discovery of the activating mutations affecting thrombopoiesis led to greater understanding of the pathobiology of essential thrombocythaemia and other myeloproliferative neoplasms...
October 2, 2017: British Journal of Hospital Medicine
https://www.readbyqxmd.com/read/28870040/-a-case-report-of-iga-%C3%AE%C2%BA-light-chain-multiple-myeloma-following-essential-thrombocythaemia
#10
Z S Wang, X M Wang, L Tao
No abstract text is available yet for this article.
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28615140/imaging-features-of-myeloproliferative-neoplasms
#11
REVIEW
I G Murphy, E L Mitchell, L Raso-Barnett, A L Godfrey, E M Godfrey
Myeloproliferative neoplasms (MPNs) are a heterogeneous group of haematological disorders including polycythaemia vera (PV), essential thrombocythaemia (ET), primary myelofibrosis (PMF), and chronic myeloid leukaemia (CML). These disorders show large overlap in genetic and clinical presentations, and can have many different imaging manifestations. Unusual thromboses, embolic events throughout the systemic or pulmonary vasculature, or osseous findings can often be clues to the underlying disease. There is limited literature about the imaging features of these disorders, and this may result in under-diagnosis...
October 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28602585/janus-kinase-2-inhibitor-fedratinib-in-patients-with-myelofibrosis-previously-treated-with-ruxolitinib-jakarta-2-a-single-arm-open-label-non-randomised-phase-2-multicentre-study
#12
MULTICENTER STUDY
Claire N Harrison, Nicolaas Schaap, Alessandro M Vannucchi, Jean-Jacques Kiladjian, Ramon V Tiu, Pierre Zachee, Eric Jourdan, Elliott Winton, Richard T Silver, Harry C Schouten, Francesco Passamonti, Sonja Zweegman, Moshe Talpaz, Joanne Lager, Zhenming Shun, Ruben A Mesa
BACKGROUND: Myelofibrosis is a chronic myeloproliferative neoplasm characterised by splenomegaly, cytopenias, bone marrow fibrosis, and debilitating symptoms including fatigue, weight loss, and bone pain. Mutations in Janus kinase-2 (JAK2) occur in approximately 50% of patients. The only approved JAK2 inhibitor for myelofibrosis is the dual JAK1 and JAK2 inhibitor, ruxolitinib. 58-71% of patients treated with ruxolitinib in clinical trials so far have not achieved the primary endpoint of 35% or more reduction in spleen volume from baseline assessed by MRI or CT...
July 2017: Lancet Haematology
https://www.readbyqxmd.com/read/28599464/dna-repair-genes-polymorphisms-and-genetic-susceptibility-to-philadelphia-negative-myeloproliferative-neoplasms-in-a-portuguese-population-the-role-of-base-excision-repair-genes-polymorphisms
#13
Ana P Azevedo, Susana N Silva, João P De Lima, Alice Reichert, Fernando Lima, Esmeraldina Júnior, José Rueff
The role of base excision repair (BER) genes in Philadelphia-negative (PN)-myeloproliferative neoplasms (MPNs) susceptibility was evaluated by genotyping eight polymorphisms [apurinic/apyrimidinic endodeoxyribonuclease 1, mutY DNA glycosylase, earlier mutY homolog (E. coli) (MUTYH), 8-oxoguanine DNA glycosylase 1, poly (ADP-ribose) polymerase (PARP) 1, PARP4 and X-ray repair cross-complementing 1 (XRCC1)] in a case-control study involving 133 Caucasian Portuguese patients. The results did not reveal a correlation between individual BER polymorphisms and PN-MPNs when considered as a whole...
June 2017: Oncology Letters
https://www.readbyqxmd.com/read/28542718/impact-of-genotype-on-leukaemic-transformation-in-polycythaemia-vera-and-essential-thrombocythaemia
#14
MULTICENTER STUDY
Alberto Alvarez-Larrán, Alicia Senín, Concepción Fernández-Rodríguez, Arturo Pereira, Eduardo Arellano-Rodrigo, Montse Gómez, Francisca Ferrer-Marin, Joaquín Martínez-López, Laura Camacho, Dolors Colomer, Anna Angona, Blanca Navarro, Francisco Cervantes, Carlos Besses, Beatriz Bellosillo, Juan Carlos Hernández-Boluda
The influence of driver mutations on leukaemic transformation was analysed in 1747 patients with polycythaemia vera or essential thrombocythaemia. With a median follow-up of 7·2 years, 349 patients died and 62 progressed to acute leukaemia or myelodysplastic syndrome. Taking death as a competing risk, CALR genotype was associated with a lower risk of transformation [subdistribution hazard ratio (SHR): 0·13, 95% confidence interval (CI): 0·2-0·9, P = 0·039], whereas JAK2 V617F showed borderline significance for higher risk (SHR: 2·05, 95% CI: 0·9-4·6, P = 0·09)...
September 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28509339/comparison-of-jak2-v617f-positive-essential-thrombocythaemia-and-early-primary-myelofibrosis-the-impact-of-mutation-burden-and-histology
#15
Roberto Latagliata, Nicola Polverelli, Alessia Tieghi, Giuseppe Alberto Palumbo, Massimo Breccia, Elena Sabattini, Loredana Villari, Mara Riminucci, Riccardo Valli, Lucia Catani, Giuliana Alimena, Emanuela Ottaviani, Angelo Fama, Giovanni Martinelli, Margherita Perricone, Marco Spinsanti, Michele Cavo, Nicola Vianelli, Francesca Palandri
An accurate histological diagnosis may distinguish essential thrombocythaemia (ET) from early primary myelofibrosis (early-PMF), which is associated with worse outcome. Outcome of ET is also negatively affected by the presence of the JAK2V617F mutation. To investigate the impact of JAK2V617F mutation burden and histology on outcome, we collected 475 WHO-diagnosed ET (69.2%) or early-PMF JAK2V617F -positive patients followed in 4 Italian haematology centers. JAK2V617F allele burden was ≤50% in 90% and 87% of ET and early-PMF patients, respectively (P = ...
February 2018: Hematological Oncology
https://www.readbyqxmd.com/read/28503875/a-rare-vascular-complication-in-a-patient-with-essential-thrombocythaemia-spontaneous-abdominal-aortic-dissection
#16
Ye Chen, Xue Han, Fang Wang, Beibei Bai, Yingchun Wang
A 27-year-old woman complained of waist and back pain. Abdominal computed tomography angiography showed abdominal aortic dissection, the blood count revealed a high platelet count of 1655 × 109 /L. Negative for JAK2V617F, CALR and MPL mutations (i.e. triple-negative), the patient was diagnosed as essential thrombocythaemia (ET) with abdominal aortic dissection and was treated with cytoreduction and antiplatelet drugs. Cases of abdominal aortic dissection in ET have not been previously reported. As such, we proposed a mechanism of abdominal aortic dissection caused by endothelial dysfunction and further emphasised appropriate management in ET with abdominal aortic dissection...
May 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28397442/predictive-factors-of-thrombosis-for-patients-with-essential-thrombocythaemia-a-single-center-study
#17
Iwona Prajs, Kazimierz Kuliczkowski
BACKGROUND: Thrombotembolic complications are the leading cause of mortality in essential thrombocythemia (ET), but the definition of thrombotic risk remains far from clear. OBJECTIVES: The aim of this study was to evaluate the prognostic markers for thrombosis to identify ET patients at risk. MATERIAL AND METHODS: Forty-five consecutive patients with ET were studied. This group was divided into two subgroups ET patients with (A) and without (B) history of thrombosis...
January 2017: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28393599/-epidemiologic-features-of-philadelphia-negative-chronic-myeloproliferative-disorders-in-szabolcs-szatm%C3%A3-r-bereg-county-hungary-analysis-of-data-of-a-33-year-period
#18
János Jakó, László Szerafin
INTRODUCTION: In their previous work, the authors reported findings from 30 years on the incidence of hematological malignancies in Szabolcs-Szatmár-Bereg county, Hungary. Until now there are no other studies on this topic available in Hungary. AIM: Detailed analysis of epidemiologic features of patients with Philadelphia-negative chronic myeloproliferative disorders was carried out. METHOD: During a 33-year period (between January 1, 1983 and December 31, 2015) 4523 adult patients with hematologic malignancies were recorded in the leukaemia/lymphoma registry of Szabolcs-Szatmár-Bereg county...
April 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28365441/the-multi-site-docking-protein-gab1-is-constitutively-phosphorylated-independent-from-its-recruitment-to-the-plasma-membrane-in-jak2-v617f-positive-cells-and-mediates-proliferation-of-human-erythroleukaemia-cells
#19
Hannes Bongartz, Wiebke Hessenkemper, Christian Müller, Melissa Fensky, Johannes Fritsch, Katharina Mandel, Iris Behrmann, Claude Haan, Thomas Fischer, Stephan M Feller, Fred Schaper
The constitutively active Janus kinase 2 mutant Jak2-V617F is responsible for cytokine-independent growth of hematopoietic cells and the development of myeloproliferative neoplasms, such as polycythaemia vera and essential thrombocythaemia. Cells expressing Jak2-V617F exhibit constitutive STAT, MAPK, and PI3K signalling, and constitutive association of the multi-site docking protein Gab1 to PIP3 at the plasma membrane. Here, we demonstrate the crucial role of Gab1 for the proliferation of Jak2-V617F-positive human erythroleukaemia (HEL) cells...
July 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28291640/pegylated-interferon-alfa-2a-in-patients-with-essential-thrombocythaemia-or-polycythaemia-vera-a-post-hoc-median-83-month-follow-up-of-an-open-label-phase-2-trial
#20
Lucia Masarova, Keyur P Patel, Kate J Newberry, Jorge Cortes, Gautam Borthakur, Marina Konopleva, Zeev Estrov, Hagop Kantarjian, Srdan Verstovsek
BACKGROUND: Pegylated interferon alfa-2a is an immunomodulatory agent used to treat polycythemia vera. The durability of responses and long-term safety of this drug in patients with polycythaemia vera and essential thrombocythaemia have not been reported. Here, we present long-term efficacy and safety data from a single-centre, open-label, phase 2 trial, after a median of 83 months follow up. METHODS: Patients older than 18 years who were diagnosed with essential thrombocythaemia or polycythaemia vera according to 2001 WHO criteria were eligible to enrol in our study...
April 2017: Lancet Haematology
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