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Polycythaemia vera

S Farmer, V V Shanbhogue, S Hansen, C I Stahlberg, H Vestergaard, A P Hermann, H Frederiksen
: In this cross-sectional study of 45 patients with myeloproliferative neoplasms, we found no evidence of secondary osteoporosis. INTRODUCTION: Patients with essential thrombocythemia (ET) and polycythaemia vera (PV) are at increased risk of fractures but the underlying mechanisms have not been settled. We conducted a study to assess bone mineral density, microarchitecture, estimated bone strength and global bone turnover in 45 patients with ET or PV. METHODS: Patients were evaluated in a cross-sectional study with dual energy X-ray absorptiometry (DXA) at the hip and spine; high-resolution peripheral quantitative computed tomography (HR-pQCT) at the distal radius and distal tibia; and biochemical markers of bone turnover including pro-collagen type 1 N-terminal pro-peptide, osteocalcin, C-terminal cross-linking telopeptide of type 1 collagen and bone-specific alkaline phosphatase...
October 13, 2016: Osteoporosis International
Samah Alimam, Susan Bewley, Lucy C Chappell, Marian Knight, Paul Seed, Gabriella Gray, Claire Harrison, Susan Robinson
The reported higher risk of maternal and fetal complications in women with myeloproliferative neoplasms (MPN) poses challenge during pregnancy. A national prospective study of maternal and fetal outcomes of pregnant women with a diagnosis of MPN was undertaken via the United Kingdom Obstetric Surveillance System between January 2010 and December 2012. Fifty-eight women with a diagnosis of MPN were identified; 47 (81%) essential thrombocythaemia, five (9%) polycythaemia vera, five (9%) myelofibrosis and one (2%) MPN-unclassified...
October 2016: British Journal of Haematology
Sarah Lawless, Mary Frances McMullin, Robert Cuthbert, Russell Houston
UNLABELLED: (32)P has been available for the treatment of myeloproliferative neoplasms (MPNs) for over seventy years. It was first used in 1938 by John H Lawrence in the treatment of polycythaemia and chronic leukaemias. With the introduction of agents such as hydroxycarbamide, interferon and anagrelide the role of (32)P has been diminished. Today, Polycythaemia Rubra Vera (PRV) and Essential Thrombocythaemia (ET) remain the only myeloproliferative conditions in which (32)P is indicated...
May 2016: Ulster Medical Journal
I S Tiong, D A Casolari, T Nguyen, M J M Van Velzen, K Ambler, R J D'Andrea, D M Ross
No abstract text is available yet for this article.
2016: Blood Cancer Journal
Sabit Delic, Dominic Rose, Wolfgang Kern, Niroshan Nadarajah, Claudia Haferlach, Torsten Haferlach, Manja Meggendorfer
Molecular routine diagnostics for BCR-ABL1-negative myeloproliferative neoplasms (MPN) currently focusses on mutations in JAK2, CALR and MPL. In recent years, recurrent mutations in MPNs have been identified in several other genes. We here present the validation of a next generation sequencing (NGS)-based 28-gene panel and its use in MPN. We analysed the mutation status of 28 genes in 100 MPN patients [40 essential thrombocythaemia (ET), 30 primary myelofibrosis (PMF), 30 polycythaemia vera (PV)] and found two or more mutated genes in 53 patients...
July 22, 2016: British Journal of Haematology
Aoibhinn Clinton, Mary Frances McMullin
The Philadelphia negative myeloproliferative neoplasms include polycythaemia vera (PV), essential thrombocytopenia (ET) and primary myelofibrosis (PMF). Patients with these conditions were mainly thought to harbour JAK2V617F mutations or an Myeloproliferative leukaemia (MPL) substitution. In 2013, two revolutionary studies identified recurrent mutations in a gene that encodes the protein calreticulin (CALR). This mutation was detected in patients with PMF and ET with non-mutated JAK2 or MPL but was absent in patients with PV...
October 2016: Journal of Clinical Pathology
Chang-Hun Park, Ki-O Lee, Jun-Ho Jang, Chul Won Jung, Jong-Won Kim, Sun-Hee Kim, Hee-Jin Kim
Gain-of-function mutations in JAK2 are the molecular hallmarks of polycythaemia vera (PV), one of the myeloproliferative neoplasms. Most (∼95%) patients harbour V617F mutation in exon 15, while the rest have small insertion/deletion mutations in exon 12. We investigated JAK2 mutations in 42 Korean patients with PV. V617F was detected by sequencing and allele-specific PCR. When V617F was negative, sequencing and fragment length analyses were performed to detect exon 12 mutations. As a result, all patients had JAK2 mutations: 37 (88%) harboured V617F, and 5 (12%) had exon 12 mutations...
August 2016: Journal of Clinical Pathology
Samer A Srour, Susan S Devesa, Lindsay M Morton, David P Check, Rochelle E Curtis, Martha S Linet, Graça M Dores
Descriptive epidemiological information on myeloproliferative neoplasms (MPNs) and myelodysplastic (MDS)/MPNs is largely derived from single institution and European population-based studies. Data obtained following adoption of the World Health Organization classification of haematopoietic neoplasms and JAK2 V617F mutation testing are sparse. Using population-based data, we comprehensively assessed subtype-specific MPN and MDS/MPN incidence rates (IRs), IR ratios (IRRs) and relative survival (RS) in the United States (2001-12)...
August 2016: British Journal of Haematology
Adrian P Trifa, Claudia Bănescu, Mihaela Tevet, Anca Bojan, Delia Dima, Laura Urian, Tünde Török-Vistai, Viola M Popov, Mihnea Zdrenghea, Ljubomir Petrov, Anca Vasilache, Meilin Murat, Daniela Georgescu, Mihaela Popescu, Oana Pătrinoiu, Marius Balea, Roxana Costache, Elena Coleș, Carmen Șaguna, Nicoleta Berbec, Ana-Maria Vlădăreanu, Romeo G Mihăilă, Horia Bumbea, Andrei Cucuianu, Radu A Popp
Polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) represent typical myeloproliferative neoplasms (MPN), usually characterized by specific somatic driver mutations (JAK2 V617F, CALR and MPL). JAK2 46/1 haplotype and telomerase reverse transcriptase gene (TERT) rs2736100 A>C single nucleotide polymorphism (SNP) could represent a large fraction of the genetic predisposition seen in MPN. The rs10974944 C>G SNP, tagging the JAK2 46/1 haplotype, and the TERT rs2736100 A>C SNP were genotyped in 529 MPN patients with known JAK2 V617F, CALR and MPL status, and 433 controls...
July 2016: British Journal of Haematology
Jacques A J Malherbe, Kathryn A Fuller, Bob Mirzai, Simon Kavanagh, Chi-Chiu So, Ho-Wan Ip, Belinda B Guo, Cecily Forsyth, Rebecca Howman, Wendy N Erber
AIMS: Megakaryocyte expansion in myeloproliferative neoplasms (MPNs) is due to uncontrolled proliferation accompanied by dysregulation of proapoptotic and antiapoptotic mechanisms. Here we have investigated the intrinsic and extrinsic apoptotic pathways of megakaryocytes in human MPNs to further define the mechanisms involved. METHODS: The megakaryocytic expression of proapoptotic caspase-8, caspase-9, Diablo, p53 and antiapoptotic survivin proteins was investigated in bone marrow specimens of the MPNs (n=145) and controls (n=15) using immunohistochemistry...
April 8, 2016: Journal of Clinical Pathology
Sadia Sultan, Syed Mohammed Irfan, Sania Murad
BACKGROUND: Polycythaemia rubra vera (PV) is a Philadelphia chromosome negative myeloproliferative neoplasm characterized by increased red cell production, independent of the mechanisms that regulate normal erythropoiesis. The aim of this study was to analyze the clinico-epidemiological profile of Pakistani patients with PV. MATERIALS AND METHODS: In this retrospective cross sectional study, 26 patients with PV were enrolled from January 2010 to December 2014. They were diagnosed based on WHO criteria...
2016: Asian Pacific Journal of Cancer Prevention: APJCP
Alberto Alvarez-Larrán, Ana Kerguelen, Juan C Hernández-Boluda, Manuel Pérez-Encinas, Francisca Ferrer-Marín, Abelardo Bárez, Joaquín Martínez-López, Beatriz Cuevas, M Isabel Mata, Valentín García-Gutiérrez, Pilar Aragües, Sara Montesdeoca, Carmen Burgaleta, Gonzalo Caballero, J Angel Hernández-Rivas, M Antonia Durán, M Teresa Gómez-Casares, Carles Besses
The clinical significance of resistance/intolerance to hydroxycarbamide (HC) was assessed in a series of 890 patients with polycythaemia vera (PV). Resistance/intolerance to HC was recorded in 137 patients (15·4%), consisting of: need for phlebotomies (3·3%), uncontrolled myeloproliferation (1·6%), failure to reduce massive splenomegaly (0·8%), development of cytopenia at the lowest dose of HC to achieve a response (1·7%) and extra-haematological toxicity (9%). With a median follow-up of 4·6 years, 99 patients died, resulting in a median survival of 19 years...
March 2016: British Journal of Haematology
Nisha R Singh
The classical myeloproliferative neoplasms (MPNs) are a group of clonal diseases comprising essential thrombocythaemia (ET), polycythaemia vera (PV) and primary myelofibrosis (PMF). PMF is the rarest disease sub type and has been challenging to address due to the lack of a specific genetic marker, inadequate risk identification models and a highly variable clinical course. Continuous efforts have over time, seen the inclusion of cytogenetic information in prognostic scoring models that have resulted in improved risk stratification models providing further rationale for therapeutic management...
April 2015: Translational pediatrics
Henrik Frederiksen, Dóra Körmendiné Farkas, Christian Fynbo Christiansen, Thomas Stauffer Larsen, Hans Carl Hasselbalch, Jesper Stentoft, Henrik Toft Sørensen
BACKGROUND: Patients with chronic myeloproliferative neoplasms are at increased risk of new solid or haematological cancers, but how prognosis is affected in patients with preceding myeloproliferative neoplasms is unclear. METHODS: We used data from population-based medical databases in Denmark from 1980 to 2011 to compare survival between cancer patients with and without a preceding diagnosis of myeloproliferative neoplasm, matched for age, sex, year of diagnosis, and type of cancer...
July 2015: Lancet Haematology
Mary F McMullin, Bridget S Wilkins, Claire N Harrison
Polycythaemia vera (PV) is a chronic blood cancer; its clinical features are dominated by myeloproliferation (erythrocytosis, often leucocytosis and/or thrombocytosis) and a tendency for thrombosis and transformation to myelofibrosis or acute myeloid leukaemia. In the past 10 years the pathophysiology of this condition has been defined as JAK/STAT pathway activation, almost always due to mutations in JAK2 exons 12 or 14 (JAK2 V617F). In the same time period our understanding of the optimal management of PV has expanded, most recently culminating in the approval of JAK inhibitors for the treatment of PV patients who are resistant or intolerant to therapy with hydroxycarbamide...
February 2016: British Journal of Haematology
Inna Kogan, Dafna Chap, Ron Hoffman, Elena Axelman, Benjamin Brenner, Yona Nadir
Patients with polycythaemia vera (PV), essential thrombocythaemia (ET) and primary myelofibrosis (PMF) are at increased risk of arterial and venous thrombosis. In patients with ET a positive correlation was observed between JAK-2 V617F mutation, that facilitates erythropoietin receptor signalling, and thrombotic events, although the mechanism involved is not clear. We previously demonstrated that heparanase protein forms a complex and enhances the activity of the blood coagulation initiator tissue factor (TF) which leads to increased factor Xa production and subsequent activation of the coagulation system...
January 2016: Thrombosis and Haemostasis
Kate McKeage
Ruxolitinib (Jakavi(®), Jakafi(®)) is an orally administered, first-in-class Janus Kinase (JAK) 1 and 2 inhibitor that was recently approved for the treatment of patients with polycythaemia vera (PV) who have responded inadequately to or are intolerant of hydroxyurea. By inhibiting JAK 1 and 2, ruxolitinib reduces hyperactive JAK-signal transducers and activators of transcription (STAT) signalling that is implicated in the pathogenesis of PV. This article briefly reviews the pharmacology of the drug, focusing on its clinical use in patients with PV...
October 2015: Drugs
Donal P McLornan, Alesia A Khan, Claire N Harrison
Over the last decade, unparalleled advances have been made within the field of 'Philadelphia chromosome'-negative myeloproliferative neoplasms (MPN) regarding both disease pathogenesis and therapeutic targeting. The discovery of deregulated JAK-STAT signalling in MPN led to the rapid development of JAK inhibitor agents, targeting both mutated and wild-type JAK, which have significantly altered the therapeutic paradigm for patients with MPN. Although the largest population treated with these agents incorporates those with myelofibrosis, increasing data supports potential usage in other MPNs such as essential thromocythaemia and polycythaemia vera...
December 2015: Current Hematologic Malignancy Reports
H Stein, R Bob, H Dürkop, C Erck, D Kämpfe, H-M Kvasnicka, H Martens, A Roth, A Streubel
Recent advances in the diagnostic of myeloproliferative neoplasms (MPNs) discovered CALRETICULIN (CALR) mutations as a major driver in these disorders. In contrast to JAK2 mutations being mainly associated with polycythaemia vera, CALR mutations are only associated with primary myelofibrosis (PMF) and essential thrombocythaemia (ET). CALR mutations are present in the majority of PMF and ET patients lacking JAK2 and MPL mutations. As these CALR mutations are absent from reactive bone marrow (BM) lesions their presence indicates ET or PMF...
January 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
Lesley A Anderson, Glen James, Andrew S Duncombe, Ruben Mesa, Robyn Scherber, Amylou C Dueck, Frank de Vocht, Mike Clarke, Mary F McMullin
The myeloproliferative neoplasms (MPN) including polycythaemia vera (PV), essential thrombocythaemia and primary myelofibrosis (PMF) are rare diseases contributing to significant morbidity. Symptom management is a prime treatment objective but current symptom assessment tools have not been validated compared to the general population. The MPN-symptom assessment form (MPN-SAF), a reliable and validated clinical tool to assess MPN symptom burden, was administered to MPN patients (n = 106) and, for the first time, population controls (n = 124) as part of a UK case-control study...
October 2015: American Journal of Hematology
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