Coexistance of JAK2V617F mutation and BCR/ABL translocation in one patient

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Coexistance of JAK2V617F mutation and BCR/ABL translocation in one patient Aynı hastada JAK2V617F mutasyonu ve BCR/ABL translokasyonu birlikteliği

1Sema Hospital, Department of Hematology, İstanbul; 2Erciyes University Department of Hematology, Kayseri; 3Fatih University Department of Hematology, Ankara, 4Hacettepe University Department of Hematology, Ankara; 5Dışkapı Yıldırım Beyazıt Education and Research Hospital, Department of Hematology, Ankara, Turkey Yazışma Adresi /Correspondence: Burak Uz MD Hacettepe University Medical School, D...

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The JAK2V617F mutation in polycythemia vera and other myeloproliferative disorders: one mutation for three diseases?

The discovery of the JAK2V617F mutation has made the diagnosis of polycythemia vera (PV) much easier, but the pathogenesis of PV is still incompletely understood. In particular, it is not yet elucidated how a single mutation can be found in multiple myeloproliferative disorders (MPD) and myelodysplastic syndromes with ring sideroblasts and whether the sole JAK2V617F is sufficient to induce a MP...

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Translocation t(3;12)(q26;q21) in JAK2V617F Point Mutation Negative Chronic Idiopathic Myelofibrosis: A Case Report

The myeloproliferative diseases (MPDs) or myelo-proliferative neoplasms (MPNs) are a group of diseases of the bone marrow in which excess cells are produced. Chronic idiopathic myelofibrosis (CIMF) is a stem cell defect characterized by splenomegaly with multiorgan extramedullary hematopoiesis, immature peripheral blood granulocytes and erythrocytes and progressive bone marrow fibrosis. The mos...

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Evaluation of JAK2V617F mutation prevalence in myeloproliferative neoplasm by AS-RT-PCR

Abstract Objective JAK2 is a non-receptor tyrosine kinase that plays a major role in myeloid disorders. JAK2V617F mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. Methods In this study we evaluated RNA from 89 pati...

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Paroxysmal nocturnal hemoglobinuria and concurrent JAK2V617F mutation

Paroxysmal nocturnal hemoglobinuria (PNH) is a hemolytic and pro-thrombotic disorder associated with the clonal expansion of hematopoietic stem cells harboring somatic mutations in the PIG-A gene. Mutations in PIG-A result in a lack of surface expression of all glycosylphosphatidylinositol (GPI)-anchored proteins, including the complement inhibitors CD55 and CD59, which is responsible for the h...

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ژورنال

عنوان ژورنال: Journal of Clinical and Experimental Investigations

سال: 2010

ISSN: 1309-6621

DOI: 10.5799/ahinjs.01.2010.02.0029