Gene expression profiling distinguishes JAK2V617F-negative from JAK2V617F-positive patients in essential thrombocythemia

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Influence of JAK2V617F allele burden on phenotype in essential thrombocythemia.

BACKGROUND Fifty to sixty percent of patients with essential thrombocythemia harbor the JAK2(V617F) mutation. The impact of this mutation on clinical phenotype is still debated. The aim of this study was to evaluate possible correlations between JAK2(V617F) mutant allele burden and both clinical presentation and hematologic abnormalities in essential thrombocythemia patients. DESIGN AND METHO...

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Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia

The aim of this study was to analyze the mutation rate of JAK2V617F, MPLW515L/K and CALR genes in adult patients with essential thrombocythemia (ET) and the accuracy of the combined detection by the receiver operating curve. Three hundred and forty-two cases with high-platelets (≥300×109/l) were consecutively selected. The patients were analyzed for routine blood examination, bone marrow biopsy...

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Impact of JAK2V617F Mutation Burden on Disease Phenotype in Chinese Patients with JAK2V617F-positive Polycythemia Vera (PV) and Essential thrombocythemia (ET)

Most patients with polycythemia vera (PV) and half of essential thrombocythemia (ET) possess an activating JAK2V617F mutation. The objective of this study was to better define the effect of JAK2V617F mutant allele burden on clinical phenotypes in Chinese patients, especially thrombosis. By real-time polymerase chain reaction (RT-PCR), the JAK2V617F mutation burden was detected in 170 JAK2V617F-...

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Immune Thrombocytopenia and JAK2V617F Positive Essential Thrombocythemia: Literature Review and Case Report

We present the case where immune thrombocytopenia (ITP) and essential thrombocythemia (ET) sequentially appeared in the space of twenty-one years of follow-up. Impaired platelet production is present in both diseases, but clinical presentation and treatment are different. On the basis of this case history a possible role of autoimmunity as a predisposing factor to myeloproliferation has been di...

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Cerebral Venous Sinus Thrombosis as the First Manifestation of JAK2V617F-positive Essential Thrombocythemia

To the Editor: Essential thrombocythemia (ET) complicated by cerebral venous sinus thrombosis (CVST) is exceptionally rare. Hitherto, few studies have mentioned the role of Janus kinase 2V617F (JAK2V617F) mutation in ET patients who developed CVST; thus, the strategy and long‐term outcomes are yet rarely reported. The present study documented four cases, wherein CVST was the first manifestation...

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ژورنال

عنوان ژورنال: Leukemia

سال: 2008

ISSN: 0887-6924,1476-5551

DOI: 10.1038/leu.2008.112