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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/27651406/polycythaemia-an-unusual-presentation-of-multiple-myeloma
#7
Elaine J Hutchison, Josephine A Taverna, Qi Yu, Andrew M Yeager
In contrast to anaemia, polycythaemia is a distinctly uncommon finding in patients with multiple myeloma. We describe the presence of otherwise unexplained polycythaemia in a 57-year-old Caucasian man who was found to have IgG κ multiple myeloma. After treatment of myeloma, the polycythaemia resolved. We reviewed previous reports of polycythaemia associated with multiple myeloma and discuss potential pathophysiological mechanisms that link these 2 conditions.
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27612319/pregnancy-outcomes-in-myeloproliferative-neoplasms-uk-prospective-cohort-study
#8
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
#9
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/27581270/endocrine-society-of-australia-position-statement-on-male-hypogonadism-part-2-treatment-and-therapeutic-considerations
#10
Bu B Yeap, Mathis Grossmann, Robert I McLachlan, David J Handelsman, Gary A Wittert, Ann J Conway, Bronwyn Ga Stuckey, Douglas W Lording, Carolyn A Allan, Jeffrey D Zajac, Henry G Burger
INTRODUCTION: Part 1 of this position statement dealt with the assessment of male hypogonadism, including the indications for testosterone therapy. This article, Part 2, focuses on treatment and therapeutic considerations for male hypogonadism and identifies key questions for future research. MAIN RECOMMENDATIONS: Key points and recommendations are:Excess cardiovascular events have been reported in some but not all studies of older men without pathological hypogonadism who were given testosterone treatment...
September 5, 2016: Medical Journal of Australia
https://www.readbyqxmd.com/read/27561094/optimal-interval-between-ultrasound-scans-for-the-detection-of-complications-in-monochorionic-twins
#11
Rebecca McDonald, Ryan Hodges, Michelle Knight, Mark Teoh, Andrew Edwards, Peter Neil, Euan M Wallace, Philip DeKoninck
INTRODUCTION: Monochorionic-diamniotic (MCDA) twin pregnancies are high risk, due to twin-to-twin transfusion syndrome (TTTS), twin anaemia polycythaemia sequence (TAPS) and intrauterine growth restriction (IUGR). There is limited evidence to guide ultrasound surveillance protocols. Using a retrospective cohort, we aimed to provide insight into the optimal interval of ultrasound surveillance. METHODS: Retrospective cohort of women with MCDA pregnancies who received antenatal care at Monash Medical Centre (January 2011-October 2014)...
August 25, 2016: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/27540717/masked-polycythaemia-vera-is-genetically-intermediate-between-jak2v617f-mutated-essential-thrombocythaemia-and-overt-polycythaemia-vera
#12
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
#13
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/27439783/rapid-initiation-of-fetal-therapy-services-with-a-system-of-learner-centred-training-under-proctorship-the-national-university-hospital-singapore-experience
#14
Arundhati Gosavi, Pradip D Vijayakumar, Bryan Sw Ng, May-Han Loh, Lay Geok Tan, Nuryanti Johana, Yi Wan Tan, Dedy Sandikin, Lin Lin Su, Tuangsit Wataganara, Arijit Biswas, Mahesh A Choolani, Citra Nz Mattar
INTRODUCTION: Management of complicated monochorionic twins and certain intrauterine structural anomalies is a pressing challenge in communities still lacking advanced fetal therapy. We describe our efforts to rapidly initiate selective feticide using radiofrequency ablation (RFA) and selective fetoscopic laser photocoagulation (SFLP) for twin-twin transfusion syndrome (TTTS) and present the latter as a potential model for aspiring fetal therapy units. METHODS: Five pregnancies with fetal complications were identified for RFA...
July 21, 2016: Singapore Medical Journal
https://www.readbyqxmd.com/read/27388485/a-surprising-cause-of-polycythaemia
#15
N E De Maeyer, S Van Lommel, T Devos, B Buyse, K Nackaerts
No abstract text is available yet for this article.
October 2016: Thorax
https://www.readbyqxmd.com/read/27354406/the-calreticulin-gene-and-myeloproliferative-neoplasms
#16
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/27348600/fetal-brain-imaging-following-laser-surgery-in-twin-to-twin-surgery
#17
J Stirnemann, G Chalouhi, M Essaoui, N Bahi-Buisson, P Sonigo, A-E Millischer, A Lapillonne, V Guigue, L J Salomon, Y Ville
OBJECTIVE: To describe the incidence and nature of prenatal brain damage following fetoscopic laser selective coagulation (FLSC) of placental vessels for twin-to-twin transfusion syndrome (TTTS). DESIGN: Retrospective observational study. SETTING: Single center cohort. POPULATION: All consecutive cases referred for TTTS treated by FLSC between 2003 and 2015. METHODS: After the FLSC, patients were followed weekly by ultrasound...
June 27, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27198504/high-frequency-of-jak2-exon-12-mutations-in-korean-patients-with-polycythaemia-vera-novel-mutations-and-clinical-significance
#18
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/27062206/anabolic-androgenic-steroids-an-easily-forgotten-cause-of-polycythaemia-and-cerebral-infarction
#19
M S Y Low, S Vilcassim, P Fedele, G Grigoriadis
Excessive anabolic androgenic steroids (both exogenous and endogenous) are known causes of polycythaemia and ischaemic cardiovascular events. Despite this, they are commonly forgotten in the workup of patients. We report a case of exogenous anabolic androgenic steroid-induced polycythaemia and stroke and explore possible pitfalls for clinicians.
April 2016: Internal Medicine Journal
https://www.readbyqxmd.com/read/27061824/incidence-and-patient-survival-of-myeloproliferative-neoplasms-and-myelodysplastic-myeloproliferative-neoplasms-in-the-united-states-2001-12
#20
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
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