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Polycythaemia vera

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https://www.readbyqxmd.com/read/27884555/after-10years-of-jak2v617f-disease-biology-and-current-management-strategies-in-polycythaemia-vera
#1
REVIEW
Jacob Grinfeld, Anna L Godfrey
The JAK2V617F mutation accounts for the vast majority of patients with polycythaemia vera (PV) and around half of those with other Philadelphia-negative myeloproliferative neoplasms. Since its discovery in 2005, numerous insights have been gained into the pathways by which JAK2V617F causes myeloproliferation, including activation of JAK-STAT signalling but also through other canonical and non-canonical pathways. A variety of mechanisms explain how this one mutation can be associated with distinct clinical disorders, demonstrating how constitutional and acquired factors may interact in the presence of a single mutation to determine disease phenotype...
November 15, 2016: Blood Reviews
https://www.readbyqxmd.com/read/27858987/the-efficacy-and-safety-of-continued-hydroxycarbamide-therapy-versus-switching-to-ruxolitinib-in-patients-with-polycythaemia-vera-a-randomized-double-blind-double-dummy-symptom-study-relief
#2
Ruben Mesa, Alessandro M Vannucchi, Abdulraheem Yacoub, Pierre Zachee, Mamta Garg, Roger Lyons, Steffen Koschmieder, Ciro Rinaldi, Jennifer Byrne, Yasmin Hasan, Francesco Passamonti, Srdan Verstovsek, Deborah Hunter, Mark M Jones, Huiling Zhen, Dany Habr, Bruno Martino
The randomized, double-blind, double-dummy, phase 3b RELIEF trial evaluated polycythaemia vera (PV)-related symptoms in patients who were well controlled with a stable dose of hydroxycarbamide (also termed hydroxyurea) but reported PV-related symptoms. Patients were randomized 1:1 to ruxolitinib 10 mg BID (n = 54) or hydroxycarbamide (prerandomization dose/schedule; n = 56); crossover to ruxolitinib was permitted after Week 16. The primary endpoint, ≥50% improvement from baseline in myeloproliferative neoplasm -symptom assessment form total symptom score cytokine symptom cluster (TSS-C; sum of tiredness, itching, muscle aches, night sweats, and sweats while awake) at Week 16, was achieved by 43·4% vs...
November 8, 2016: British Journal of Haematology
https://www.readbyqxmd.com/read/27813534/splanchnic-vein-thrombosis-in-myeloproliferative-neoplasms-risk-factors-for-recurrences-in-a-cohort-of-181-patients
#3
V De Stefano, A M Vannucchi, M Ruggeri, F Cervantes, A Alvarez-Larrán, A Iurlo, M L Randi, L Pieri, E Rossi, P Guglielmelli, S Betti, E Elli, M C Finazzi, G Finazzi, E Zetterberg, N Vianelli, G Gaidano, I Nichele, D Cattaneo, M Palova, M H Ellis, E Cacciola, A Tieghi, J C Hernandez-Boluda, E Pungolino, G Specchia, D Rapezzi, A Forcina, C Musolino, A Carobbio, M Griesshammer, T Barbui
We retrospectively studied 181 patients with polycythaemia vera (n=67), essential thrombocythaemia (n=67) or primary myelofibrosis (n=47), who presented a first episode of splanchnic vein thrombosis (SVT). Budd-Chiari syndrome (BCS) and portal vein thrombosis were diagnosed in 31 (17.1%) and 109 (60.3%) patients, respectively; isolated thrombosis of the mesenteric or splenic veins was detected in 18 and 23 cases, respectively. After this index event, the patients were followed for 735 patient years (pt-years) and experienced 31 recurrences corresponding to an incidence rate of 4...
November 4, 2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/27797860/central-retinal-artery-occlusion-as-a-presenting-manifestation-of-polycythaemia-vera
#4
Karthik Rao, Shailaja Bhat Shenoy, Yogish Kamath, Smita Kapoor
A 60-year-old woman with no premorbidities presented with symptoms of sudden painless vision loss in the left eye (LE). Best-corrected visual acuity in the LE was counting fingers close to face. A relative afferent pupillary defect was observed in the LE. Ocular fundus examination of LE was suggestive of central retinal artery occlusion. Systemic evaluation revealed splenomegaly and normal cardiac and carotid arteries. Haematological investigations revealed increased haemoglobin, haematocrit, platelet count and leucocytosis with low erythrocyte sedimentation rate (ESR)...
October 20, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27796129/-diagnosis-and-treatment-of-polycythaemia-vera-state-of-the-art
#5
Imelda Marton, Zsófia Simon, Zita Borbényi
Polycythaemia vera (PV), a condition characterized by blood hyperviscosity due to the expansion of the erythrocyte mass is the most common entity among all Philadelphia chromosome-negative myeloproliferative neoplasms. Arterial and venous thrombotic events are leading determinants of morbidity and mortality but impairment of quality of life due to vasomotor symptoms (erythromelalgia, pruritus) and disease-associated symptoms (tiredness, fatigue, pruritus, night sweats, vision problems, headache, concentration loss, abdominal discomfort, early satiety, fever, weight loss) are also present...
October 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/27734102/bone-mineral-density-and-microarchitecture-in-patients-with-essential-thrombocythemia-and-polycythemia-vera
#6
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
https://www.readbyqxmd.com/read/27612319/pregnancy-outcomes-in-myeloproliferative-neoplasms-uk-prospective-cohort-study
#7
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
https://www.readbyqxmd.com/read/27601760/-32-p-in-the-treatment-of-myeloproliferative-disorders
#8
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
https://www.readbyqxmd.com/read/27540717/masked-polycythaemia-vera-is-genetically-intermediate-between-jak2v617f-mutated-essential-thrombocythaemia-and-overt-polycythaemia-vera
#9
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
https://www.readbyqxmd.com/read/27447873/application-of-an-ngs-based-28-gene-panel-in-myeloproliferative-neoplasms-reveals-distinct-mutation-patterns-in-essential-thrombocythaemia-primary-myelofibrosis-and-polycythaemia-vera
#10
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
https://www.readbyqxmd.com/read/27354406/the-calreticulin-gene-and-myeloproliferative-neoplasms
#11
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
https://www.readbyqxmd.com/read/27198504/high-frequency-of-jak2-exon-12-mutations-in-korean-patients-with-polycythaemia-vera-novel-mutations-and-clinical-significance
#12
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
https://www.readbyqxmd.com/read/27061824/incidence-and-patient-survival-of-myeloproliferative-neoplasms-and-myelodysplastic-myeloproliferative-neoplasms-in-the-united-states-2001-12
#13
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
https://www.readbyqxmd.com/read/27061303/tert-rs2736100-a-c-snp-and-jak2-46-1-haplotype-significantly-contribute-to-the-occurrence-of-jak2-v617f-and-calr-mutated-myeloproliferative-neoplasms-a-multicentric-study-on-529-patients
#14
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
https://www.readbyqxmd.com/read/27060176/dysregulation-of-the-intrinsic-apoptotic-pathway-mediates-megakaryocytic-hyperplasia-in-myeloproliferative-neoplasms
#15
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
https://www.readbyqxmd.com/read/27039801/clinico-epidemiological-profile-of-patients-with-polycythaemia-rubra-vera-a-five-year-experience-from-a-tertiary-care-center
#16
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
https://www.readbyqxmd.com/read/26898196/frequency-and-prognostic-value-of-resistance-intolerance-to-hydroxycarbamide-in-890-patients-with-polycythaemia-vera
#17
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/26835366/genomic-diversity-in-myeloproliferative-neoplasms-focus-on-myelofibrosis
#18
REVIEW
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
https://www.readbyqxmd.com/read/26688384/survival-of-patients-with-chronic-myeloproliferative-neoplasms-and-new-primary-cancers-a-population-based-cohort-study
#19
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
https://www.readbyqxmd.com/read/26492433/management-of-polycythaemia-vera-a-critical-review-of-current-data
#20
REVIEW
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
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