Coexistence of JAK2 and BCR-ABL mutation in patient with myeloproliferative neoplasm

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Coexistence of BCR-ABL1 Translocation and JAK2 V617F Mutation in a Patient with Chronic Myeloid Leukemia Under Long-term Treatment with Imatinib and Nilotinib: A Case Report

 This report describes an 89-year-old woman diagnosed with Philadelphia positive Chronic Myeloid Leukemia in 2007 who was initially treated with 200 mg/day imatinib. The patient demonstrated complete molecular response (CMR) in two tests in 2015 and 2018. During treatment between 2007 and 2019, despite increased dosage of imatinib and switching her therapy to nilotinib, complete hematological r...

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Allelic Expression Imbalance of JAK2 V617F Mutation in BCR-ABL Negative Myeloproliferative Neoplasms

The discovery of a single point mutation in the JAK2 gene in patients with BCR/ABL-negative myeloproliferative neoplasms (MPNs) has not only brought new insights and pathogenesis, but also has made the diagnosis of MPNs much easier. Although, to date, several mechanisms for the contribution of single JAK2V617F point mutation to phenotypic diversity of MPNs have been suggested in multiple studie...

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Differences in the JAK2 and MPL mutation status in the cell lineages of the bcr/abl-negative chronic myeloproliferative neoplasm subtypes.

OBJECTIVE While the somatic mutation of Janus Kinase 2 (JAK2) and the thrombopoietin receptor (c-MPL) gene are thought to affect the pathogenesis of bcr/abl negative chronic myeloproliferative neoplasm (MPN), the relationship between the mutation and the clinical features remain obscure. METHODS The mutation status of these genes in granulocytes, platelets, T-cells, and erythroid colonies (BF...

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Lipocalin-2 is associated with modulation of disease phenotype in a patient with concurrent JAK2-V617F and BCR-ABL mutation.

We investigated the role of lipocalin-2 (LCN-2) and its receptor (SLC22A17) in mediating clonal dominance in a patient with both BCR-ABL and JAK2-V617F mutations. LCN-2 mRNA showed a near 50-fold increase in expression, accompanied by down-regulation of SLC22A17, coinciding with increase in BCR-ABL transcripts, loss of JAK2-V617F and change of clinical phenotype from polycythaemia vera to chron...

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Prevalence of MPL (W515K/L) Mutations in Patients with Negative-JAK2 (V617F) Myeloproliferative Neoplasm in North-East of Iran

Background and Objective: Janus kinase 2 (JAK2) and Myeloproliferative Leukemia (MPL) mutations are confirmatory indicators for Myeloproliferative Neoplasm (MPN). The current study was performed to determine the frequency of MPL mutation in MPN patients without JAK2 mutation, in order to assign MPL mutation frequency in North-East of Iran.Methods: Total o...

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ژورنال

عنوان ژورنال: Nigerian Medical Journal

سال: 2015

ISSN: 0300-1652

DOI: 10.4103/0300-1652.149177