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  • Myelofibrosis
  • Polycythaemia vera (PV) is a clonal haematological malignancy characterised by pronounced symptoms, including fatigue, pruritus and symptomatic splenomegaly, along with an increased risk of thrombosis and the potential for evolution to myelofibrosis and secondary acute myeloid leukemia [ 1 ] . (patient.info)
  • clinical
  • A mouse model of this mutation produced a clinical phenotype consistent with polycythemia vera. (medscape.com)
  • It is acknowledged that there exists a spectrum of clinical, morphological and molecular features even in such a rare disease as CNL and it is hoped that the next revision of World Health Organization classification of haematopoietic malignancies provides both clarification and consensus. (bmj.com)
  • Tefferi A, Barbui T (2015) Essential thrombocythemia and polycythemia vera: focus on clinical practice. (springer.com)
  • Its focus on erythropoiesis represents an attempt to cover a rapidly expanding field, which has gone from elegant studies of erythro- poietin physiology, to molecular biology, to clinical applications and again to physiology. (springer.com)
  • The concept of such a biological continuum is being increasingly recognized and supported by clinical and molecular studies, the latter displaying increasing JAK2V617F allelic burden throughout the stages. (hindawi.com)
  • JAK2
  • The aim of this study is to analyze the phenotypic divergence between polycytemia vera (PV) and essential thrombocytemia (ET) to find novel therapeutics targets by a proteomic and functional approach to identify alternative routes to JAK2 activation. (biomedcentral.com)
  • 7 Twenty-one of 29 (72.4%) had a decrease of at least 50% in the JAK2 V617F allele burden after 24 months of treatment, implying that hematologic and molecular response in PV are strongly correlated. (haematologica.org)
  • The effect of various non-interferon treatments on the JAK2 V617F allele burden in PV has also been ambiguous, with some showing significant molecular responses 10 - 14 and others not. (haematologica.org)
  • Consequently it might therefore be argued that CNL is a distinct molecular entity and similar to World Health Organization-defined atypical chronic myeloid leukaemia, is a JAK2 V617F-negative disease . (bmj.com)
  • More than 90 percent of individuals with polycythemia vera have a variation (mutation) in the JAK2 gene. (rarediseases.org)
  • methods
  • Proteomic screening methods to find new physiopathogenic candidate proteins have not been widely employed in cancer, although a large number of molecular genetic tests have been performed with variable results. (biomedcentral.com)
  • biology
  • This volume presents the proceedings of the Fourth Annual Symposium on the Molecular Biology of Hemopoiesis, held in Reno, Nevada, November 1 and 2, 1988. (springer.com)
  • Clonality
  • Clonality testing is a well-established molecular diagnostic technique in the realm of hematopathology. (springer.com)
  • Molecular techniques to diagnose hematological malignancies based on the detection of clonality have been with us since the mid-1980s, based on the seminal observation that lymphoid cells rearrange their antigen receptor genes and that recurrent genetic rearrangements are present in myeloid neoplasms. (springer.com)
  • symptoms
  • The symptoms of polycythemia vera usually develop slowly over many years. (rarediseases.org)
  • Many individuals with polycythemia vera slowly development a variety of general, nonspecific symptoms that are common to many disorders such as headaches, fatigue, weakness, dizziness, excessive sweating especially at night, and itchy skin that, in severe cases, may be worse after taking a shower or a warm bath. (rarediseases.org)
  • Less common symptoms associated with polycythemia vera include a tendency to bruise easily, frequent nosebleeds or bleeding from the gums, enlargement of the liver (hepatomegaly), and erythromelalgia, a condition characterized by a reddened or purplish appearance to the skin of the hands and feet. (rarediseases.org)
  • occur
  • Complications that occur due to blood clots may be referred as thrombotic events and, in rare cases, can be the first obvious sign of polycythemia vera. (rarediseases.org)
  • The precise mechanism underlying these responses is incompletely understood and whether the molecular responses that are seen occur due to the effects of IFNα on JAK2V617F mutant stem cells is debated. (sigmaaldrich.com)
  • genetic
  • Flow cytometric assessment of TCR-Vbeta expression in the evaluation of peripheral blood involvement by T-cell lymphoproliferative disorders: a comparison with conventional T-cell immunophenotyping and molecular genetic techniques. (springer.com)
  • partial
  • Results Of the 46 treated with interferon, 41 (89.1%) had a hematologic response, whereas only 7 (15.2%) had a partial molecular response. (haematologica.org)
  • Statistical
  • Statistical agreement between hematologic response and molecular response was poor in all treatment groups. (haematologica.org)
  • Over the last few years, we have pioneered the field of epigenomics (i.e., epigenetics at a genome-scale level), founding the first NIH-supported NIH epigenome center in the country and developing many novel tools for molecular and statistical analysis. (hopkinsmedicine.org)
  • seen
  • The JAK2V617F mutation leads to constitutive phosphorylation, thus constitutive activity and STAT recruitment, which provides the proliferative advantage seen in polycythemia vera. (medscape.com)