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myeloproliferative neoplasms

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https://www.readbyqxmd.com/read/28543980/multicenter-analysis-of-the-use-of-transjugular-intrahepatic-portosystemic-shunt-tips-for-management-of-mpn-associated-portal-hypertension
#1
Christopher R Reilly, Daria V Babushok, Karlyn Martin, Jerry L Spivak, Michael Streiff, Ranjeeta Bahirwani, Jeffrey Mondschein, Brady Stein, Alison Moliterno, Elizabeth O Hexner
BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are clonal stem cell disorders defined by proliferation of one or more myeloid lineages, and carry an increased risk of vascular events and progression to myelofibrosis and leukemia. Portal hypertension (pHTN) occurs in 7-18% of MPN patients via both thrombotic and nonthrombotic mechanisms and portends a poor prognosis. Transjugular intrahepatic portosystemic shunt (TIPS) has been used in the management of MPN-associated pHTN; however, data on long-term outcomes of TIPS in this setting is limited and the optimal management of medically refractory MPN-associated pHTN is not known...
May 24, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28529308/assessing-the-thrombotic-risk-of-patients-with-essential-thrombocythemia-in-the-genomic-era
#2
REVIEW
L Falchi, H M Kantarjian, S Verstovsek
The molecular characterization of myeloproliferative neoplasms (MPN), including essential thrombocythemia (ET), has enabled deeper understanding of their pathogenesis. A driver lesion, namely, Janus kinase (JAK)2V617F, calreticulin (CALR) or myeloproliferative leukemia (MPL) gene mutation can be identified in the vast majority of patients. Each of these mutations is associated with distinct clinical features and may modulate the patients' clinical course, risk of complications, including vascular events, and survival...
May 22, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28518222/the-effect-of-initial-molecular-profile-on-response-to-recombinant-interferon-%C3%AE-rifn%C3%AE-treatment-in-early-myelofibrosis
#3
Richard T Silver, Ariella C Barel, Elena Lascu, Ellen K Ritchie, Gail J Roboz, Paul J Christos, Attilio Orazi, Duane C Hassane, Wayne Tam, Nicholas C P Cross
BACKGROUND: Although recombinant interferon-α (rIFNα) effectively treats patients with early myelofibrosis, the effect of driver and high molecular risk (HMR) mutations has not been considered. In this phase 2 study, for the first time, the authors correlate response to rIFNα treatment with driver and HMR mutations. METHODS: Patients were diagnosed using World Health Organization or International Working Group for Myeloproliferative Neoplasms Research and Treatment criteria...
May 18, 2017: Cancer
https://www.readbyqxmd.com/read/28515254/nccn-debuts-new-guidelines-for-myeloproliferative-neoplasms
#4
Ruben A Mesa
For the first time, NCCN has published guidelines specifically geared toward treating myeloproliferative neoplasms (MPNs). The first set of guidelines was developed for myelofibrosis (MF), and was presented at the NCCN 22nd Annual Conference. Future guidelines will be issued for polycythemia vera, essential thrombocytopenia, and atypical MPNs. Patients with MF can have an unpredictable course, one that is largely dependent on the presence of certain molecular alterations. Models are currently emerging that take into account molecular factors...
May 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/28513614/recurrent-somatic-jak-stat-pathway-variants-within-a-runx1-mutated-pedigree
#5
Kiran Tawana, Jun Wang, Péter A Király, Krisztián Kállay, Gábor Benyó, Marianna Zombori, Judit Csomor, Ahad Al Seraihi, Ana Rio-Machin, András Matolcsy, Claude Chelala, Jamie Cavenagh, Jude Fitzgibbon, Csaba Bödör
Germline variants within the transcription factor RUNX1 are associated with familial platelet disorder and acute leukemia in over 40% of carriers. At present, the somatic events triggering leukemic transformation appear heterogeneous and profiles of leukemia initiation across family members are poorly defined. We report a new RUNX1 family where three sisters harboring a germline nonsense RUNX1 variant, c.601C>T (p.(Arg201*)), developed acute myelomonocytic leukemia (AML) at 5 years of age. Whole-exome sequencing of tumor samples revealed all three siblings independently acquired variants within the JAK-STAT pathway, specifically targeting JAK2 and SH2B3 (a negative regulator of JAK2), while also sharing the 46/1 haplotype linked with sporadic JAK2-positive myeloproliferative neoplasms...
May 17, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28504024/detection-of-driver-and-subclonal-mutations-in-myelofibrosis-clinical-impact-on-pharmacologic-and-transplant-based-treatment-strategies
#6
Maria Chiara Finazzi, Federico Lussana, Silvia Salmoiraghi, Orietta Spinelli, Alessandro Rambaldi
Myelofibrosis (MF) is the most aggressive form among Philadelphia negative (Ph-) myeloproliferative neoplasms (MPNs). In the last years, the mutational landscape of MF has expanded remarkably by the identification of additional recurrent mutations, called subclonal mutations. Areas covered: Here we describe the available data about the currently identified subclonal mutations and their prognostic value in MF patients. We also review the practical value of including such molecular information in available prognostic models for both outcome prediction and possibly treatment decision with regards to transplant indication...
May 25, 2017: Expert Review of Hematology
https://www.readbyqxmd.com/read/28503969/essential-thrombocythemia-a-review-of-the-clinical-features-diagnostic-challenges-and-treatment-modalities-in-the-era-of-molecular-discovery
#7
Sarah Chuzi, Brady L Stein
Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm that is associated with diminished quality of life, thrombohemorrhagic complications, and transformation to myelofibrosis (MF) and acute leukemia (AML). The important recent discoveries of driver mutations, including the calreticulin gene in addition to JAK2 and MPL, have led to a greater understanding of disease pathogenesis and set the stage for the advent of more sophisticated prognostic, diagnostic, and therapeutic strategies. In this paper we summarize recent studies describing the molecular basis of ET...
May 15, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28502479/megakaryocytes-in-myeloproliferative-neoplasms-have-unique-somatic-mutations
#8
Belinda B Guo, Richard J Allcock, Bob Mirzai, Jacques A Malherbe, Fizzah A Choudry, Mattia Frontini, Hun Chuah, James Liang, Simon E Kavanagh, Rebecca Howman, Willem H Ouwehand, Kathryn A Fuller, Wendy N Erber
Myeloproliferative neoplasms (MPNs) are a group of related clonal hemopoietic stem cell disorders associated with hyperproliferation of myeloid cells. They are driven by mutations in the hemopoietic stem cell, most notably JAK2(V617F), CALR, and MPL. Clinically, they have the propensity to progress to myelofibrosis and transform to acute myeloid leukemia. Megakaryocytic hyperplasia with abnormal features are characteristic, and it is thought that these cells stimulate and drive fibrotic progression. The biological defects underpinning this remain to be explained...
May 11, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28501635/determining-the-role-of-inflammation-in-the-selection-of-jak2-mutant-cells-in-myeloproliferative-neoplasms
#9
Jie Zhang, Angela G Fleischman, Dominik Wodarz, Natalia L Komarova
Myeloproliferative neoplasm (MPN) is a hematologic malignancy characterized by the clonal outgrowth of hematopoietic cells with a somatically acquired mutation most commonly in JAK2 (JAK2(V617F)). This mutation endows upon myeloid progenitors cytokine independent growth and consequently leads to excessive production of myeloid lineage cells. It has been previously suggested that inflammation may play a role in the clonal evolution of JAK2(V617F) mutants. In particular, it is possible that one or more cellular kinetic parameters of hematopoietic stem cells (HSCs) are affected by inflammation, such as division or death rates of cells, and the probability of HSC differentiation...
May 10, 2017: Journal of Theoretical Biology
https://www.readbyqxmd.com/read/28500663/obesity-and-related-risk-of-myeloproliferative-neoplasms-among-israeli-adolescents
#10
Adi Leiba, Adrian Duek, Arnon Afek, Estela Derazne, Merav Leiba
OBJECTIVE: Obesity has been associated with various malignancies, but a clear association between overweight and myeloproliferative neoplasms (MPN) has not been established. METHODS: This study assessed the association between adolescent obesity and future risk for MPN. Data on 2,516,256 Israeli adolescents, who underwent a compulsory general health examination at ages 16 to 19, between 1967 and 2011, were linked to the National Cancer Registry in this nationwide, population-based cohort study...
May 12, 2017: Obesity
https://www.readbyqxmd.com/read/28500170/jak2-inhibitors-for-myeloproliferative-neoplasms-what-is-next
#11
Prithviraj Bose, Srdan Verstovsek
Since its approval in 2011, the Janus kinase (JAK) 1/2 inhibitor ruxolitinib has evolved to become the centerpiece of therapy for myelofibrosis (MF), and its use in patients with hydroxyurea resistant/intolerant polycythemia vera (PV) is steadily increasing. A number of other JAK2 inhibitors have entered clinical testing, but none has been approved yet, and many discontinued. Importantly, the activity of these agents is not restricted to patients with JAK2 V617F or exon 12 mutations. Although JAK2 inhibitors provide substantial clinical benefit, their disease-modifying activity is limited, and rational combinations with other targeted agents are needed, particularly in MF, where survival is short...
May 12, 2017: Blood
https://www.readbyqxmd.com/read/28499938/allogeneic-stem-cell-transplantation-in-myelofibrosis
#12
REVIEW
Tania Jain, Ruben A Mesa, Jeanne M Palmer
Myeloproliferative neoplasm is a category in the World Health Organization classification of myeloid tumors. BCR-ABL1-negative MPN is a subcategory that includes primary myelofibrosis (MF), post-essential thrombocythemia MF, and post-polycythemia vera MF. These disorders are characterized by stem cell-derived clonal myeloproliferation. Clinically, these diseases present with anemia and splenomegaly, as well as significant constitutional symptoms, such as severe fatigue, symptoms associated with an enlarged spleen and liver, pruritus, fevers, night sweats, and bone pain...
May 9, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28497580/the-evaluation-of-the-relevance-of-thrombin-generation-and-procoagulant-activity-in-thrombotic-risk-assessment-in-bcr-abl-negative-myeloproliferative-neoplasm-patients
#13
H Baccouche, M Ben Jemaa, A Chakroun, S Chadi, S Mahjoub, I Sfar, Y Gorgi, N Ben Romdhane
INTRODUCTION: It has been recently suggested that microparticles (MP) play a role in the pathogenesis of thrombotic complications. This study aimed to assess the contribution of procoagulant activity expressed by circulating MP in thrombotic events in MPN patients. METHODS: Seventy-four MPN patients were enrolled in a trans-sectional study. The MP procoagulant activity was measured using two assays: (i) the thrombin generation (TG) assay used in different conditions with the addition of both tissue factor (TF) and phospholipids (PL) and with the addition of TF or PL alone and (ii) the PROCOAG-PPL assay...
May 12, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28495918/bone-marrow-morphology-is-a-strong-discriminator-between-chronic-eosinophilic-leukemia-not-otherwise-specified-from-reactive-idiopathic-hypereosinophilic-syndrome
#14
Sa A Wang, Robert P Hasserjian, Wayne Tam, Albert G Tsai, Julia T Geyer, Tracy I George, Kathryn Foucar, Heesun J Rogers, Eric D Hsi, Bryan A Rea, Adam Bagg, Carlos Bueso-Ramos C, Daniel A Arber, Srdan Verstovsek, Attilio Orazi
Chronic eosinophilic leukemia, not otherwise specified can be difficult to distinguish from idiopathic hypereosinophilic syndrome according to the current World Health Organization guideline. To examine if BM morphological features might aid in the differential diagnosis of these two entities, we studied a total of 139 patients with a diagnosis of chronic eosinophilic leukemia, not otherwise specified (n=17) or idiopathic hypereosinophilic syndrome (n=122). As a group, abnormal BM morphological features, resembling myelodysplastic syndromes, myeloproliferative neoplasm or myelodysplastic/myeloproliferative neoplasm were identified in 40/139 (27%) patients, 16(94%) chronic eosinophilic leukemia and 24 (20%) hypereosinophilic syndrome...
May 11, 2017: Haematologica
https://www.readbyqxmd.com/read/28491265/experience-with-ruxolitinib-in-the-treatment-of-polycythaemia-vera
#15
REVIEW
Samah Alimam, Claire Harrison
Polycythaemia vera (PV) is a myeloproliferative neoplasm classically characterized by an erythrocytosis and is associated with a high risk of thromboembolic events, constitutional symptoms burden and risk of transformation to myelofibrosis and acute myeloid leukaemia. Therapy is directed at the haematocrit (HCT) to reduce the risk of thrombotic events and usually comprises low-dose aspirin and phlebotomy to maintain HCT at >45%. Frequently in addition, cytoreductive therapy is indicated in high-risk patients for normalizing haematological parameters to mitigate the occurrence of thromboembolic events...
April 2017: Therapeutic Advances in Hematology
https://www.readbyqxmd.com/read/28484264/the-role-of-lnk-sh2b3-genetic-alterations-in-myeloproliferative-neoplasms-and-other-hematological-disorders
#16
REVIEW
N Maslah, B Cassinat, E Verger, J-J Kiladjian, L Velazquez
Malignant hematological diseases are mainly due to the occurrence of molecular abnormalities leading to the deregulation of signaling pathways essential for precise cell behavior. High resolution genome analysis using microarray and large-scale sequencing have helped identify several important acquired gene mutations that are responsible for such signaling deregulations across different hematological malignancies. In particular, the genetic landscape of classical myeloproliferative neoplasms (MPNs) has been in large part completed with the identification of driver mutations (targeting the cytokine receptor/JAK2 pathway) that determine MPN phenotype, as well as additional mutations mainly affecting the regulation of gene expression (epigenetics or splicing regulators) and signaling...
May 9, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28484156/bcr-abl1-positive-chronic-myeloid-leukemia-emerging-in-a-patient-with-secondary-myelofibrosis-harboring-the-jak2-v617f-mutation
#17
Ayae Amemiya, Yoshikazu Ito, Yasunori Ishibashi, Yuu Saito, Seiichiro Katagiri, Tamiko Suguro, Michiyo Asano, Seiichiro Yoshizawa, Daigo Akahane, Yuko Tanaka, Hiroaki Fujimoto, Seiichi Okabe, Moritaka Gotoh, Tetsuzo Tauchi, Kazuma Ohyashiki
A 53-year-old woman with a 27-year history of myeloproliferative neoplasms came to our hospital because of a marked white blood cell count increase and progressive anemia. Clinical examination demonstrated positivity for BCR-ABL1 and JAK2-V617F mutations. She was given a diagnosis of chronic myeloid leukemia. Using the international scale, a molecular response (MR) (4.5) was achieved after treatment with dasatinib, despite the persistence of marked splenomegaly. The pathological findings of myelofibrosis were demonstrated by bone marrow biopsy...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28483676/selective-testing-for-calreticulin-gene-mutations-in-patients-with-splanchnic-vein-thrombosis-a-prospective-cohort-study
#18
Johanne Poisson, Aurélie Plessier, Jean-Jacques Kiladjian, Fanny Turon, Bruno Cassinat, Annalisa Andreoli, Emmanuelle De Raucourt, Odile Goria, Kamal Zekrini, Christophe Bureau, Florence Lorre, Francisco Cervantes, Dolors Colomer, François Durand, Juan-Carlos Garcia-Pagan, Nicole Casadevall, Dominique-Charles Valla, Pierre-Emmanuel Rautou, Christophe Marzac
BACKGROUND AND AIMS: Myeloproliferative neoplasms (MPN) are the leading cause of splanchnic vein thrombosis (SVT). JAK2(V617F) mutation is found in 80-90% of patients with SVT and MPN. Mutations of the calreticulin (CALR) gene have also been reported. However, as their prevalence ranges from 0 to 2%, the utility of routine testing can be questioned. This study aimed at identifying a group of patients with SVT at high risk of harboring CALR mutations and thus requiring this genetic testing...
May 5, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28482711/the-presence-of-monoclonal-gammopathy-in-ph-negative-myeloproliferative-neoplasms-is-associated-with-a-detrimental-effect-on-outcomes
#19
Lenaïg Le Clech, Mehdi Sakka, Ahmed Meskar, Helene Kerspern, Jean-Richard Eveillard, Christian Berthou, Caroline Buors, Eric Lippert, Gaelle Guillerm, Isabelle Quintin-Roué, Jean-Luc Carré, Jean-Christophe Ianotto
Many case reports have indicated the occurrence of monoclonal gammopathy of uncertain significance (MGUS) or multiple myeloma (MM) in patients with Ph-negative myeloproliferative neoplasms (MPN), but few cohorts of patients have been published. This study concerns 667 patients newly diagnosed with polycythemia vera (PV) or essential thrombocythemia (ET) who were tested for monoclonal (M) protein at diagnosis (13.9% of patients). The overall survival of patients with M protein was dramatically lower than that of patients without M protein (12...
May 9, 2017: Leukemia & Lymphoma
https://www.readbyqxmd.com/read/28470469/somatic-mutations-of-calreticulin-in-myeloproliferative-neoplasms
#20
REVIEW
Misa Imai, Marito Araki, Norio Komatsu
Recurrent somatic mutations in calreticulin (CALR) gene that encodes a molecular chaperone residing in the endoplasmic reticulum were identified in 2013 in a subset of patients with myeloproliferative neoplasms (MPNs). All of these mutations found in patients were either small insertion or deletion in a narrow region on exon 9 of CALR gene, and caused +1 frameshift in the reading frame for the translation of the carboxyl-terminus of CALR. Because of this unique feature, the CALR mutation is believed to be a gain-of-function mutation...
June 2017: International Journal of Hematology
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