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Myelofibrosis myeloproliferative CML

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https://www.readbyqxmd.com/read/27686171/detection-of-calr-mutation-in-clonal-and-nonclonal-hematologic-diseases-using-fragment-analysis-and-next-generation-sequencing
#1
Juli-Anne Gardner, Jason D Peterson, Scott A Turner, Barbara L Soares, Courtney R Lancor, Luciana L Dos Santos, Prabhjot Kaur, Deborah L Ornstein, Gregory J Tsongalis, Francine B de Abreu
OBJECTIVES: To describe three methods used to screen for frameshift mutations in exon 9 of the CALR gene. METHODS: Genomic DNA from 47 patients was extracted from peripheral blood and bone marrow using the EZ1 DNA Blood Kit (Qiagen, Valencia, CA) and quantified by the Quant-iT PicoGreen dsDNA Assay Kit (Invitrogen, San Diego, CA). After clinical history, cytogenetics, and molecular tests, patients were diagnosed with either clonal or nonclonal hematologic diseases...
October 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27686170/cal2-immunohistochemical-staining-accurately-identifies-calr-mutations-in-myeloproliferative-neoplasms
#2
Laila Nomani, Juraj Bodo, Xiaoxian Zhao, Lisa Durkin, Sanam Loghavi, Eric D Hsi
OBJECTIVES: Mutations in CALR (calreticulin) have been discovered in 50% to 80% of JAK2 (Janus kinase 2) and MPL (myeloproliferative leukemia protein) wild-type patients with Philadelphia-negative myeloproliferative neoplasm (MPNs). We evaluate the performance of a monoclonal antibody for immunohistochemical detection of CALR mutations. METHODS: A computerized archival search was performed for cases of non-chronic myeloid leukemia (CML) MPNs with available CALR and JAK2 V617F mutational analysis data...
October 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27494969/-not-available
#3
Matthieu Mosca, Gaëlle Vertenoeil, Katte Rao Toppaldoddi, Isabelle Plo, William Vainchenker
BIOLOGICAL ASPECTS OF JAK/STAT SIGNALING IN BCR-ABL-NEGATIVE MYELOPROLIFERATIVE NEOPLASMS: Myeloproliferative disorders more recently named Myeloproliferative neoplasms (MPN) display several clinical entities: chronic myeloid leukemia (CML), the classical MPN including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) and atypical and unclassifiable NMP. The term MPN is mostly used for classical BCR-ABL-negative (myeloproliferative disorder) (ET, PV, PMF). These are clonal diseases resulting from the transformation of an hematopoietic stem cell and leading to an abnormal production of myeloid cells...
June 2016: Bulletin du Cancer
https://www.readbyqxmd.com/read/27282563/the-expression-of-death-inducer-obliterator-dido-variants-in-myeloproliferative-neoplasms
#4
Maria Gabriela Berzoti-Coelho, Aline Fernanda Ferreira, Natalia de Souza Nunes, Mariana Tomazini Pinto, Maurício Cristiano Rocha Júnior, Belinda Pinto Simões, Carlos Martínez-A, Elizabeth Xisto Souto, Rodrigo Alexandre Panepucci, Dimas Tadeu Covas, Simone Kashima, Fabíola Attié Castro
Chronic Myeloid Leukemia (CML), Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF) are Myeloproliferative Neoplasms (MPN) characterized by clonal myeloproliferation without cell maturation impairment. CML pathogenesis is associated with the Ph chromosome leading to BCR-ABL tyrosine-kinase constitutive expression. The Ph negative MPN (PV, ET and PMF) are characterized by the mutation JAK2(V617F) of the JAK2 protein in the auto-inhibitory JH2 domain, which is found in most PV patients and in approximately half of ET and PMF patients...
July 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27111338/the-polymorphisms-in-lnk-gene-correlated-to-the-clinical-type-of-myeloproliferative-neoplasms
#5
Yan Chen, Fang Fang, Yang Hu, Qian Liu, Dingfang Bu, Mei Tan, Liusong Wu, Ping Zhu
OBJECTIVE: LNK is an adapter protein negatively regulating the JAK/STAT cell signaling pathway. In this study, we observed the correlation between variation in LNK gene and the clinical type of myeloproliferative neoplasms (MPN). METHODS: A total of 285 MPN cases were recruited, including essential thrombocythemia (ET) 154 cases, polycythemia vera (PV) 76 cases, primary myelofibrosis (PMF) 19 cases, and chronic myeloid leukemia (CML) 36 cases. Ninety-three healthy individuals were used as normal controls...
2016: PloS One
https://www.readbyqxmd.com/read/26617890/prevalence-of-the-frequency-of-jak2-v617f-mutation-in-different-myeloproliferative-disorders-in-egyptian-patients
#6
Gamal T Ebid, Mohamed Ghareeb, Omina Salaheldin, Mahmoud M Kamel
BACKGROUND AND OBJECTIVES: Detection of chromosomal abnormalities in myeloproliferative disorders is important for proper diagnosis of these disorders. This study has investigated the presence of JAK2 mutation (V617F) in Egyptian patients with myeloproliferative disorders referred to National Cancer institute, Cairo University. METHODS: The study involved 110 cases of Philadelphia negative Myeloproliferative diseases (MPDs), 70 cases with Polycythemia Vera (PV), 24 cases with Essential Thrombocytosis (ET) and 16 cases with Idiopathic Myelofibrosis (IMF) and 20 cases as a control group which represented as; (10 cases with secondary erythrocytosis, 1 case with reactive thrombocytosis, 4 cases as normal control and 5 as Philadelphia positive Chronic Myeloid Leukemia cases), they were collected from National Cancer Institute (NCI) over 3 years...
2015: International Journal of Clinical and Experimental Pathology
https://www.readbyqxmd.com/read/26543328/cytokine-regulation-of-microenvironmental-cells-in-myeloproliferative-neoplasms
#7
REVIEW
Gregor Hoermann, Georg Greiner, Peter Valent
The term myeloproliferative neoplasms (MPN) refers to a heterogeneous group of diseases including not only polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF), but also chronic myeloid leukemia (CML), and systemic mastocytosis (SM). Despite the clinical and biological differences between these diseases, common pathophysiological mechanisms have been identified in MPN. First, aberrant tyrosine kinase signaling due to somatic mutations in certain driver genes is common to these MPN...
2015: Mediators of Inflammation
https://www.readbyqxmd.com/read/26492355/myeloproliferative-neoplasms-a-decade-of-discoveries-and-treatment-advances
#8
REVIEW
Ayalew Tefferi
Myeloproliferative neoplasms (MPN) are clonal stem cell diseases, first conceptualized in 1951 by William Dameshek, and historically included chronic myeloid leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). In 1960, Nowell and Hungerford discovered an invariable association between the Philadelphia chromosome (subsequently shown to harbor the causal BCR-ABL1 mutation) and CML; accordingly, the term MPN is primarily reserved for PV, ET, and PMF, although it includes other related clinicopathologic entities, according to the World Health Organization (WHO) classification system...
January 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/26489695/jak-2-v617f-mutation-increases-heparanase-procoagulant-activity
#9
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
https://www.readbyqxmd.com/read/26487696/co-occurrence-of-myeloproliferative-neoplasms-and-solid-tumors-is-attributed-to-a-synergism-between-cytoreductive-therapy-and-the-common-tert-polymorphism-rs2736100
#10
COMPARATIVE STUDY
Tunde Krahling, Katalin Balassa, Katalin Piroska Kiss, Andras Bors, Arpad Batai, Gabriella Halm, Miklos Egyed, Sandor Fekete, Peter Remenyi, Tamas Masszi, Attila Tordai, Hajnalka Andrikovics
BACKGROUND: The germline telomerase reverse transcriptase (TERT) rs2736100_C variant was identified as a susceptibility factor for a variety of solid tumors and recently for myeloproliferative neoplasms (MPN). METHODS: LightCycler melting curve analysis was applied to detect risk alleles of TERT rs2736100_C and Janus kinase 2 (JAK2) rs12343867_C tagging 46/1 haplotype in 584 BCR-ABL1-negative MPN, 308 acute, and 86 chronic myeloid leukemia (AML and CML) patients and 400 healthy individuals...
January 2016: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/26185305/acute-myeloid-leukemia-and-other-types-of-disease-progression-in-myeloproliferative-neoplasms
#11
REVIEW
Magdalena Czader, Attilio Orazi
OBJECTIVES: This session of the Society for Hematopathology/European Association for Haematopathology workshop focused on disease progression in myeloproliferative neoplasms (MPNs). METHODS: The session included typical and unusual presentations of chronic myelogenous leukemia (CML), BCR-ABL1 positive; Philadelphia chromosome-negative (Ph-neg) MPNs; and mastocytosis. RESULTS: Cases of CML illustrated various manifestations of progression, with emphasis on criteria defining stages of the disease...
August 2015: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/25976962/molecular-genetic-evaluation-of-myeloproliferative-neoplasms
#12
REVIEW
E M Azzato, A Bagg
The classical myeloproliferative neoplasms (MPNs) consist of chronic myelogenous leukemia (CML) and the non-CML MPNs, polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Molecular testing plays a crucial role in each of these disease entities. In this review, we discuss the role and caveats of BCR-ABL1 fusion transcript evaluation in CML diagnosis and monitoring, as well as ABL1 kinase mutation testing in the setting of tyrosine kinase inhibitor resistance. We also focus on JAK2, MPL, and CALR mutations in PV, ET, and PMF...
May 2015: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/25860380/a-rapid-highly-accurate-method-for-quantifying-calr-mutant-allele-burden-in-persons-with-myeloproliferative-neoplasms
#13
Qiu-Mei Yao, Jiao Zhou, Robert Peter Gale, Jin-Lan Li, Ling-Di Li, Ning Li, Shan-Shan Chen, Guo-Rui Ruan
BACKGROUND: Calreticulin (CALR) mutations were recently identified in a substantial proportion of persons with essential thrombocythemia (ET) and with primary myelofibrosis (PMF) without JAK2(V617F). Consequently rapid, sensitive, and specific methods to detect and quantify these mutations are needed. METHODS: We studied samples from 1088 persons with myeloproliferative neoplasms (MPNs) including 421 JAK2(V617F) negative subjects with ET, PMF, polycythemia vera (PV), chronic myeloid leukemia (CML) and hyper-eosinophilic syndrome (HES)...
October 2015: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/25657500/coexistence-of-jak2-and-bcr-abl-mutation-in-patient-with-myeloproliferative-neoplasm
#14
Abdulaziz Hassan, Livingstone Gayus Dogara, Ahmadu Aliyu Babadoko, Sani Awwalu, Aisha Indo Mamman
The World Health Organisation (WHO) classifies myeloproliferative neoplasm (MPN) into BCR-ABL positive chronic myeloid leukaemia (CML Ph(+)) and Ph(-) MPN. The JAK2 V617F mutation is specific for Ph(-) MPN and occurs in approximately 50% of primary myelofibrosis. Earlier reports suggest that the occurrence of JAK2 and BCR-ABL mutations are mutually exclusive. However, recent reports have documented the coexistence of BCR-ABL and JAK2 mutation in the same patient mostly following treatment with tyrosine kinase inhibitors (TKIs)...
January 2015: Nigerian Medical Journal: Journal of the Nigeria Medical Association
https://www.readbyqxmd.com/read/25638299/impaired-right-ventricular-pulmonary-vascular-function-in-myeloproliferative-neoplasms
#15
Emir C Roach, Margaret M Park, W H Wilson Tang, James D Thomas, Kewal Asosingh, Matt Kalaycio, Serpil C Erzurum, Samar Farha
BACKGROUND: Increased bone marrow hemangioblast numbers, alterations in erythroid/myeloid lineages, increased reticulin, and greater circulating bone marrow progenitor cells are present in patients with pulmonary arterial hypertension (PAH). The data suggest that myeloid progenitors contribute to the pathogenesis of PAH, but there are little data on the prevalence of pulmonary vascular disease among the different forms of myeloid diseases. We hypothesized that there would be a higher prevalence of pulmonary vascular disease in myeloproliferative neoplasms that have high circulating progenitor cells, such as myelofibrosis and chronic myelogenous leukemia (CML), compared with those with low circulating progenitors, such as in aplastic anemia...
March 2015: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/25314776/-synchronous-and-metachronous-myeloid-and-lymphoid-tumors
#16
A L Melikian, T I Kolosheĭnova, S R Goriacheva, I N Subortseva, M V Vakhrusheva, E N Kolosova, A B Sudarikov, A O Abdullaev, V N Dvirnyk, E Iu Varlamova, A M Kovrigina, A G Turkina
AIM: To determine the clinical features of multiple primary tumors (MPT) in patients with hemoblastoses, to develop treatment policy for synchronous and metachronous tumors, and to determine the impact of chemotherapy for one disease on the course and prognosis of another one. SUBJECTS AND METHODS: The investigation included 20 patients with multiple primary synchronous and metachronous myeloid and lymphoid tumors, who had been followed up at the Outpatient Department of the Hematology Research Center, Ministry of Health of the Russian Federation...
2014: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/25129052/epidemiology-of-mpn-what-do-we-know
#17
REVIEW
L A Anderson, M F McMullin
The myeloproliferative neoplasms, are characterised by overproduction of myeloid cells. Chronic myeloid leukaemia, polycythaemia vera, essential thrombocythaemia, myelofibrosis and the very rare disorders chronic neutrophilic leukaemia, chronic eosinophilic leukaemia not otherwise specified and mastocytosis are all included in the group. Incidence and prevalence rates reported in the worldwide literature are presented in this review. Survival data on each condition is described. Information on the aetiology of the disorders is discussed including body mass index, diet, smoking and alcohol, allergies, associated medical conditions, occupation and environmental exposures with focus on recent new studies...
December 2014: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/25089599/an-update-on-allogeneic-hematopoietic-progenitor-cell-transplantation-for-myeloproliferative-neoplasms-in-the-era-of-tyrosine-kinase-inhibitors
#18
REVIEW
K Adekola, U Popat, S O Ciurea
Myeloproliferative neoplasms are a category of diseases that have been traditionally amenable to allogeneic hematopoietic progenitor cell transplantation. Current developments in drug therapy have delayed transplantation for more advanced phases of the disease, especially for patients with CML, whereas transplantation remains a mainstream treatment modality for patients with advanced myelofibrosis and chronic myelomonocytic leukemia. Reduced-intensity conditioning has decreased the treatment-related mortality, and advances in the use of alternative donors for transplantation could extend the use of this procedure to an increasing number of patients with improved safety and efficacy...
November 2014: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/24627006/jak-2-positive-myeloproliferative-neoplasms
#19
REVIEW
Pablo J Muxí, Ana Carolina Oliver
Originally described by Dameshek in 1951, myeloproliferative disorders are today classified as myeloproliferative Neoplasms (MPNs) in WHO's Classification of Tumors of Hematopoietic and Lymphoid Tissues. The term includes a range of conditions, [ie, BCR-ABL-positive chronic myelogenous leukemia (CML), chronic neutrophilic leukemia (CNL), polycythemia vera (PV), primary myelofibrosis (PMF), essential thromobocythemia (ET), chronic eosinophilic leukemia not otherwise specified (CEL-NOS), mastocytosis, and unclassifiable myeloproliferative neoplasm]...
June 2014: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/24618579/survival-patterns-in-united-states-us-medicare-enrollees-with-non-cml-myeloproliferative-neoplasms-mpn
#20
Gregory L Price, Keith L Davis, Sudeep Karve, Gerhardt Pohl, Richard A Walgren
PURPOSE: Non-CML myeloproliferative neoplasms (MPN) include essential thrombocythemia (ET), polycythemia vera (PV), and myelofibrosis (MF). Reported median overall survival (OS) ranges from a few to several years for MF, a decade or more for ET and PV. The study objective was to compare US survival rates of ET, PV, and MF patients with matched non-MPN/non-cancer controls in a nationally representative database. PATIENTS AND METHODS: Data were taken retrospectively from the Survey, Epidemiology, and End Results (SEER)-Medicare linked database...
2014: PloS One
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