Jak2 Mutational Status: Clinical and Laboratory Correlates in 104 Patients with Essential Thrombocythemia
نویسندگان
چکیده
Cuvinte cheie: Neoplazii mieloproliferative, trombocitemie esenţială, JAK2 Rezumat: Bolile sau neoplaziile mieloproliferative (BMP) sunt boli heterogene situate la nivelul celulei stem hematopoietice. Se caracterizează prin proliferare celulară şi maturare aparent matură. Trombocitemia esenţială (TE), policitemia vera (PV) şi metaplazia mieloidă agnogenică (MMA) sunt în mod curent clasificate ca şi neoplazii mieloproliferative Philadelphia (Ph1)negative. TE se caracterizează prin trombocitoză persistentă, proliferare în exces a megakariocitelor în măduvă, masă eritrocitară normală şi absenţa mielofibrozei medulare. Patogeneza moleculară a BMP nu a fost bine înţeleasă până în anul 2005 când s-a raportat existenţa unei mutaţiii JAK2V617F dobândite la aproximativ 50% din pacienţii cu TE, MMA şi la majoritatea pacienţilor cu PV. Am studiat prevalenţa mutaţiei JAK2V617F, corelaţiile clinice şi de laborator la 104 pacienţi întrun singur centru hematologic, în Transilvania.
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Correlation of JAK2 V617F mutant allele quantitation with clinical presentation and type of chronic myeloproliferative neoplasm.
Activating JAK2 V617F mutation is present in many patients with chronic myeloproliferative neoplasms. We evaluated, retrospectively, clinical and laboratory data from 70 patients with BCR-ABL1 negative, JAK2 positive, chronic myeloproliferative disease. Quantity of the JAK2 mutant allele was tested for correlation with the clinical presentation, type of chronic myeloproliferative disease, hemog...
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Patients with essential thrombocythemia may carry JAK2 (V617F), an MPL substitution, or a calreticulin gene (CALR) mutation. We studied biologic and clinical features of essential thrombocythemia according to JAK2 or CALR mutation status and in relation to those of polycythemia vera. The mutant allele burden was lower in JAK2-mutated than in CALR-mutated essential thrombocythemia. Patients with...
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BACKGROUND This study evaluated potential correlations between the allele burden of the Janus kinase 2 (JAK2) V617F mutation and clinicohematologic characteristics in patients with myeloproliferative neoplasms (MPN). METHODS Clinical and hematologic features were reviewed for 103 MPN patients, including patients with polycythemia vera (PV, 22 patients), essential thrombocythemia (ET, 64 patie...
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Background and Aim: The JAK2 is an acquired mutation that is observed in majority of patients with classical Philadelphia-negative Myeloproliferative neoplasms that include polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF). This acquired mutation is characterized by a G to T transversion at nucleotide 1849 in exon 12 of the JAK2 gene, leading to a substitution ...
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