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Myeloproliferative disorder

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https://www.readbyqxmd.com/read/27913534/myelodysplastic-and-myeloproliferative-disorders-of-childhood
#1
Henrik Hasle
Myelodysplastic syndrome (MDS) and myeloproliferative disorders are rare in children; they are divided into low-grade MDS (refractory cytopenia of childhood [RCC]), advanced MDS (refractory anemia with excess blasts in transformation), and juvenile myelomonocytic leukemia (JMML), each with different characteristics and management strategies. Underlying genetic predisposition is recognized in an increasing number of patients. Germ line GATA2 mutation is found in 70% of adolescents with MDS and monosomy 7. It is challenging to distinguish RCC from aplastic anemia, inherited bone marrow failure, and reactive conditions...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27909216/molecular-determinants-of-pathogenesis-and-clinical-phenotype-in-myeloproliferative-neoplasms
#2
Jacob Grinfeld, Jyoti Nangalia, Anthony R Green
The myeloproliferative neoplasms are a heterogeneous group of clonal disorders characterised by overproduction of mature cells in the peripheral blood, together with an increased risk of thrombosis and progression to acute myeloid leukemia. The majority of patients with Philadelphia-chromosome negative myeloproliferative neoplasms harbour somatic mutations in Janus kinase 2, leading to constitutive activation. Acquired mutations in calreticulin or myeloproliferative leukemia virus oncogene are found in a significant number of patients with essential thrombocythaemia or myelofibrosis, and mutations in numerous epigenetic regulators and spliceosome components are also seen...
December 1, 2016: Haematologica
https://www.readbyqxmd.com/read/27899952/prognostic-and-predictive-implications-of-sokal-euro-and-eutos-scores-in-chronic-myeloid-leukaemia-in-the-imatinib-era-experience-from-a-tertiary-oncology-centre-in-southern-india
#3
Lakshmaiah Chinnagiriyappa Kuntegowdanahalli, Govind Babu Kanakasetty, Aditi Harsh Thanky, Lokanatha Dasappa, Linu Abraham Jacob, Suresh Babu Mallekavu, Rajeev Krishnappa Lakkavalli, Lokesh N Kadabur, Rudresha Antapura Haleshappa
Chronic myeloid leukaemia (CML) is a myeloproliferative disorder. Over the years many prognostic models have been developed to better risk stratify this disease at baseline. Sokal, Euro, and EUTOS scores were developed in varied populations initially receiving various therapies. Here we try to identify their predictive and prognostic implication in a larger population of Indian patients with CML-CP (chronic phase) in the imatinib era.
2016: Ecancermedicalscience
https://www.readbyqxmd.com/read/27895669/myeloproliferative-disease-an-unusual-cause-of-raynaud-s-phenomenon-and-digital-ischaemia
#4
Celia Beynon, Gwenan Huws, Tom Lawson
We describe a 59-year-old female who presented with ischaemic digits, preceded by a 6-month history of Raynaud's phenomenon affecting her fingers and toes. There were no clinical or laboratory features of primary vasculitis or connective tissue disease, Doppler imaging was normal, and bloods were unremarkable aside from a platelet count of 786 × 109/L (150-400) and white cells of 16 × 109/L (4-11). In view of the thrombocytosis a JAK2 mutation assay was requested which confirmed a JAK2 V617F mutation, suggesting essential thrombocytosis (ET) as the cause...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27892526/comprehensive-gene-expression-meta-analysis-and-integrated-bioinformatic-approaches-reveal-shared-signatures-between-thrombosis-and-myeloproliferative-disorders
#5
Prabhash Kumar Jha, Aatira Vijay, Anita Sahu, Mohammad Zahid Ashraf
Thrombosis is a leading cause of morbidity and mortality in patients with myeloproliferative disorders (MPDs), particularly polycythemia vera (PV) and essential thrombocythemia (ET). Despite the attempts to establish a link between them, the shared biological mechanisms are yet to be characterized. An integrated gene expression meta-analysis of five independent publicly available microarray data of the three diseases was conducted to identify shared gene expression signatures and overlapping biological processes...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27890856/sirna-cell-penetrating-peptides-complexes-as-a-combinatorial-therapy-against-chronic-myeloid-leukemia-using-bv173-cell-line-as-model
#6
João Miguel Freire, Inês Rego de Figueiredo, Javier Valle, Ana Salomé Veiga, David Andreu, Francisco J Enguita, Miguel A R B Castanho
Chronic myeloid leukemia (CML) is a myeloproliferative disorder caused by a single gene mutation, a reciprocal translocation that originates the Bcr-Abl gene with constitutive tyrosine kinase activity. As a monogenic disease, it is an optimum target for RNA silencing therapy. We developed a siRNA-based therapeutic approach in which the siRNA is delivered by pepM or pepR, two cell-penetrating peptides (CPPs) derived from the dengue virus capsid (DENV C) protein. These peptides have a dual role: siRNA delivery into cells and direct action as bioportides, i...
November 24, 2016: Journal of Controlled Release: Official Journal of the Controlled Release Society
https://www.readbyqxmd.com/read/27884974/from-leeches-to-personalized-medicine-evolving-concepts-in-the-management-of-polycythemia-vera
#7
Alessandro Maria Vannucchi
Polycythemia vera (PV), a clonal disorders of hematopoietic stem/progenitor cells that manifests with prevalent expansion of red cell mass, is the most frequent among chronic myeloproliferative neoplasms (MPN). It is characterized by a V617F point mutation in JAK2 exon 14 , or less common mutations in exon 12, in virtually all cases. The landmark discovery of autonomously activated JAK/STAT signaling pathway paved the way for the clinical development of the first target drug, the JAK1 and JAK2 inhibitor ruxolitinib, that is now approved for patients with resistance or intolerance to hydroxyurea...
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27884555/after-10years-of-jak2v617f-disease-biology-and-current-management-strategies-in-polycythaemia-vera
#8
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/27869662/the-cell-killing-mechanisms-of-hydroxyurea
#9
REVIEW
Amanpreet Singh, Yong-Jie Xu
Hydroxyurea is a well-established inhibitor of ribonucleotide reductase that has a long history of scientific interest and clinical use for the treatment of neoplastic and non-neoplastic diseases. It is currently the staple drug for the management of sickle cell anemia and chronic myeloproliferative disorders. Due to its reversible inhibitory effect on DNA replication in various organisms, hydroxyurea is also commonly used in laboratories for cell cycle synchronization or generating replication stress. However, incubation with high concentrations or prolonged treatment with low doses of hydroxyurea can result in cell death and the DNA damage generated at arrested replication forks is generally believed to be the direct cause...
November 17, 2016: Genes
https://www.readbyqxmd.com/read/27866578/leukocytosis-and-leukemia
#10
REVIEW
Page Widick, Eric S Winer
Leukocytosis is among the most common findings on peripheral blood smear. A wide range of causes may mediate this finding, and careful clinical and laboratory evaluation assist in differentiating between benign and malignant causes of increased white blood cell counts. In this article, various nonmalignant causes are explored, including infectious, inflammatory, autoimmune, and allergic. In addition, malignant causes of leukocytosis are discussed, including myeloproliferative disorders, acute leukemia, and chronic leukemia, as well as treatment and monitoring for patients with these diseases...
December 2016: Primary Care
https://www.readbyqxmd.com/read/27865464/myeloproliferative-neoplasms-molecular-drivers-and-therapeutics
#11
G W Reuther
Activating mutations in genes that drive neoplastic cell growth are numerous and widespread in cancer, and specific genetic alterations are associated with certain types of cancer. For example, classic myeloproliferative neoplasms (MPNs) are hematopoietic stem cell disorders that affect cells of the myeloid lineage, including erythrocytes, platelets, and granulocytes. An activating mutation in the JAK2 tyrosine kinase is prevalent in these diseases. In MPN patients that lack such a mutation, other genetic changes that lead to activation of the JAK2 signaling pathway are present, indicating deregulation of JAK2 signaling plays an etiological driving role in MPNs, a concept supported by significant evidence from in vivo experimental MPN systems...
2016: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/27865175/jak2-v617f-mutant-vascular-niche-contributes-to-jak2-v617f-clonal-expansion-in-myeloproliferative-neoplasms
#12
Chi Hua Sarah Lin, Kenneth Kaushansky, Huichun Zhan
The myeloproliferative neoplasms (MPNs) are characterized by hematopoietic stem/progenitor cell (HSPC) expansion and overproduction of blood cells. The acquired mutation JAK2(V617F) plays a central role in these disorders. Mechanisms responsible for MPN HSPC expansion is not fully understood, limiting the effectiveness of current treatments. Endothelial cells (ECs) carrying the JAK2(V617F) mutation can be detected in patients with MPNs, suggesting that ECs are involved in the pathogenesis of MPNs. Here we report that JAK2(V617F)-bearing primary murine ECs have increased cell proliferation and angiogenesis in vitro compared to JAK2(WT) ECs...
November 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27857896/prevalence-of-abelson-murine-leukemia-viral-oncogene-homolog-breakpoint-cluster-region-fusions-and-correlation-with-peripheral-blood-parameters-in-chronic-myelogenous-leukemia-patients-in-lorestan-province-iran
#13
Ali Asghar Kiani, Farhad Shahsavar, Mojtaba Gorji, Kolsoum Ahmadi, Vahideh Heydari Nazarabad, Banafsheh Bahmani
CONTEXT: Chronic myelogenous leukemia (CML) is a chronic malignancy of myeloid linage associated with a significant increase in granulocytes in bone marrow and peripheral blood. CML diagnosis is based on detection of Philadelphia chromosome and "Abelson murine leukemia viral oncogene homolog" (ABL)-"breakpoint cluster region protein" fusions (ABL-BCR fusions). AIMS: In this study, patients with CML morphology were studied according to ABL-BCR fusions and the relationship between the fusions and peripheral blood cell changes was examined...
October 2016: International Journal of Applied and Basic Medical Research
https://www.readbyqxmd.com/read/27855276/detection-of-calr-and-mpl-mutations-in-low-allelic-burden-jak2-v617f-essential-thrombocythemia
#14
Fabrice Usseglio, Nathalie Beaufils, Anne Calleja, Sophie Raynaud, Jean Gabert
Myeloproliferative neoplasms are clonal hematopoietic stem cell disorders characterized by aberrant proliferation and an increased tendency toward leukemic transformation. The genes JAK2, MPL, and CALR are frequently altered in these syndromes, and their mutations are often a strong argument for diagnosis. We analyzed the mutational profiles of these three genes in a cohort of 164 suspected myeloproliferative neoplasms. JAK2 V617F mutation was detected by real-time PCR, whereas high-resolution melting analysis followed by Sanger sequencing were used for searching for mutations in JAK2 exon 12, CALR, and MPL...
November 14, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27849645/current-management-of-patients-with-chronic-myelomonocytic-leukemia
#15
Ana Alfonso, Guillermo Montalban-Bravo, Guillermo Garcia-Manero
PURPOSE OF REVIEW: The present review will focus on the current management of patients with chronic myelomonocytic leukemia (CMML) as well as in future therapeutic perspectives. RECENT FINDINGS: CMML is a clonal hematopoietic stem cell disorder characterized by peripheral blood monocytosis and myelodysplastic and myeloproliferative alterations in the bone marrow. Clinical behavior of the disease can be heterogeneous, with some patients having an indolent form of the disease, whereas others experience an aggressive course with decreased survival and eventual transformation to leukemia...
January 2017: Current Opinion in Oncology
https://www.readbyqxmd.com/read/27843657/reactivation-of-pulmonary-tuberculosis-following-treatment-of-myelofibrosis-with-ruxolitinib
#16
Maheen Z Abidi, Javeria Haque, Parvathi Varma, Horatiu Olteanu, Guru Subramanian Guru Murthy, Binod Dhakal, Parameswaran Hari
Ruxolitinib is widely in use for treatment of myeloproliferative disorders. It causes inhibition of the Janus kinase (JAK) signal transducer and activation of transcription (STAT) pathway, which plays a key role in the underlying pathophysiology of myeloproliferative diseases. We describe a case of reactivation pulmonary tuberculosis in a retired physician while on treatment with ruxolitinib. We also review the literature on opportunistic infections following use of ruxolitinib. Our case highlights the importance of screening for latent tuberculosis in patients from highly endemic areas prior to start of therapy with ruxolitinib...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27811851/establishment-of-a-congenital-amegakaryocytic-thrombocytopenia-model-and-a-thrombocyte-specific-reporter-line-in-zebrafish
#17
Q Lin, Y Zhang, R Zhou, Y Zheng, L Zhao, M Huang, X Zhang, A Y H Leung, W Zhang, Y Zhang
Mutations in the human myeloproliferative leukemia protein gene (MPL) are known to cause congenital amegakaryocytic thrombocytopenia (CAMT). The prognosis of this heritable disorder is poor and bone marrow transplantation is the only effective treatment. Here, by using transcription activator-like effect or nucleases (TALEN) technology, we created a zebrafish mpl mutant to model human CAMT. Disruption of zebrafish mpl leaded to a severe reduction in thrombocytes and a high bleeding tendency, as well as deficiencies in adult HSPCs...
November 4, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27808462/pediatric-8p11-eosinophilic-myeloproliferative-syndrome-ems-a-case-report-and-review-of-the-literature
#18
REVIEW
Jay F Sarthy, Naresh Reddivalla, Mohamed Radhi, Katherine Chastain
The 8p11 eosinophilic myeloproliferative syndrome (EMS) is an aggressive neoplasm driven by translocation of the fibroblast growth factor receptor 1 and often transforms to leukemias and lymphomas that are refractory to treatment. The first case was identified in 1983, and to date over 70 cases have been reported in the literature. Despite those reports, no consensus exists on management of this condition, and inconsistency in treatment regimens is even more pronounced in the pediatric literature. We report a case of a male infant with the 8p11 EMS, review the published pediatric experience with EMS, and discuss treatment strategies for this enigmatic hematological disorder...
November 3, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27806853/cutaneous-myeloid-dendritic-cell-dyscrasia-a-cutaneous-clonal-monocytosis-associated-with-chronic-myeloproliferative-disorders-and-peripheral-blood-monocytosis
#19
Cynthia M Magro, Shabnam Momtahen, Shalini Verma, Ronnie M Abraham, Constantin Friedman, Gerard J Nuovo, Wayne Tam
Monocytes are critical components of the innate immune system and they can differentiate into dendritic cells (DCs). Cutaneous neoplasms of dendritic cell origin are uncommon and mostly represented by histiocytic lesions derived primarily from Langerhans cells. The myeloid DC (mDC) while recognized in the immunology literature does not have a well-defined neoplastic cutaneous counterpart. Eleven patients with a diagnosis of cutaneous mDC dyscrasia were evaluated. Routine hematoxylin and eosin stain were performed followed by selective phenotypic studies...
December 2016: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/27796499/underlying-mechanisms-of-the-jak2v617f-mutation-in-the-pathogenesis-of-myeloproliferative-neoplasms
#20
A Mullally
Chronic myeloproliferative neoplasms (MPN) comprise a spectrum of clonal neoplastic disorders characterized by overproduction of terminally differentiated cells of the myeloid lineage. A common genetic basis for the BCR-ABL-negative MPN disorders was elucidated in 2005 with the identification of the JAK2V617F mutation in the majority of MPN patients. The discovery of JAK2V617F had a dramatic impact on the diagnosis and treatment of MPN. Testing for JAK2 mutations is now included in the World Health Organization (WHO) criteria for the diagnosis of MPN, and in 2011 the oral JAK2 kinase inhibitor ruxolitinib became the first Food and Drug Administration (FDA)-approved drug for the treatment of myelofibrosis...
November 2016: Der Pathologe
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