V617F mutation
<p>Analysis of the reannealing- instead of melting-curve in the detection of JAK2 V617F mutation by HRM method</p>
... sensitivity of this method (with 6% limit of detection), 16 it can be useful in following up the patients ’ response to the treat- ment and determining MRD for them. So the analysis of HRM is essential for detection. ...
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Original Article Chronic neutrophilic leukemia with JAK2 V617F mutation: a case report
... JAK2 V617F targets different types of cells and hence leads to different ...JAK2 V617F-targeted cells might be ...JAK2 V617F-targeted progenitor cells differentiated into different types of ...JAK2 ...
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“Study of JAK2 V617F mutation, serum B12 level and interleukin – 23 level in polycythemia vera
... JAK2 V617F mutation analysis. From 48 JAK2 +ve mutation patients, 30 cases were selected who met the diagnostic criteria of PV according to: questionnaire that included their hematological finding by ...
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Original Article Prevalence of the frequency of JAK2 (V617F) mutation in different myeloproliferative disorders in Egyptian patients
... JAK2 mutation detection is now integrated in the diagnosis of ...(V617F) mutation in Egyptian patients with MPDs and our results are comparable to published literature in the ...12 mutation in ...
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JAK2 V617F mutation negative erythrocytosis (or how to more simply perform diagnosis and treat a patient with increased hematocrit)
... This case report focuses on a 71-year old patient affected by unknown dyspnea and erythrocytosis referred by his general practitioner to our center for specialist advice after a hema- tological examination had excluded ...
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Splanchnic venous thrombosis in JAK2 V617F mutation positive myeloproliferative neoplasms – long term follow-up of a regional case series
... JAK2 V617F testing ...JAK2 V617F appears to function as an all or nothing ef- fect with JAK2 V617F allele burden previously observed to be low in this patient group [8] The number of re- ported cases ...
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Secondary Acute Myeloid Leukemia in a One-Year-Old Girl Diagnosed with JAK2-V617F Mutation Positive Myeloproliferative Neoplasm
... Two children have been described previously with a JAK2-V617F+ MPNs [10]. The first was a six-year-old girl with severe anemia and thrombocytopenia. She was found to have missense mutations in KRAS and TET2, but a ...
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A case of minor BCR-ABL1 positive acute lymphoblastic leukemia following essential thrombocythemia and originating from a clone distinct from that harboring the JAK2-V617F mutation
... development of an aberrant clone. A recent report that MPNs can remodel the bone marrow niche may support this hypothesis [15]. The other is that an aberrant clone may develop independently to ET or B-ALL with the ...
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The JAK2 V617F Mutation in Chronic Myeloid Leukaemia within a BCR-ABL Positive Cohort of Beninese Patients
... genetic mutation in exon 12 of the JAK2 tyrosine kinase gene leading to a substitution of a valine for a phenylalanine (V617F) has been described as the most common form of CML for those who test negative ...
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JAK2 V617F mutation, multiple hematologic and non-hematologic processes: an association?
... MPN's (previously chronic myeloproliferative diseases) are characterized by effective clonal myeloproliferation (for example, peripheral blood granulocytosis, thrombocytosis or erythrocytosis) in the absense of ...
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The Prevalence of JAK2 -V617F Mutation in Sudanese Patients with Chronic Myeloproliferative Neoplasms
... JAK2-V617F mutation in 2005 [6,7], the mutation results from a somatic G to T mutation involving JAK2 exon 14, which leads to nucleotide change at position 1849 and the substitution of valine ...
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JAK2 Mutations in Chronic Myeloproliferative Neoplasm; Towards the Application of Personalized Treatments for Saudi Patients
... somatic mutation in the Janus kinase 2 gene (JAK2), causes a valine to phenylalanine substitution at position 617 (JAK2 V617F) resulting in a constitutively activated tyrosine kinase in most cases of CMPN ...
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Rituximab for managing acquired hemophilia A in a case of chronic neutrophilic leukemia with the JAK2 kinase <em>V617F </em>mutation
... Regarding the patient’s persistent leukocytosis, which had been noted for the past 2 years, no causative infectious diseases were found. A granulocyte colony-stimulating factor (G-CSF)-producing tumor was ruled out on ...
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Development of a high resolution melting analysis assay for rapid identification of JAK2 V617F missense mutation and its validation
... PCR RFLP. F: 5 ′ -AGG ACT TTT CTG AGG ATA CA-3 ′ PCR RFLP. F: 5 ′ -ATA GTT TAC ACT GAC ACC TA-3 ′ A segment of the JAK2 gene of about 1147 bp was amplified. PCR–RFLP was performed using 12.5 µl of master mix (amplicon), ...
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Impact of <em>JAK2</em>(<em>V617F</em>) mutation status on treatment response to anagrelide in essential thrombocythemia: an observational, hypothesis-generating study
... full analysis set (JAK2-positive, n=22; JAK2-negative, n=24). At 12 months, 35 patients (n=14 and n=21, respectively) had a suitable platelet sample; of these, 74.3% (n=26) achieved at least a partial response. The ...
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Myelodysplastic disorders carrying both isolated del(5q) and <em>JAK2<sup>V617F</sup></em> mutation: concise review, with focus on lenalidomide therapy
... tion is a rare event which occurs prevalently in patients with a possibly “mixed” and still not well-defined MDS/MPN disorder. However, it would seem possible to identify some cases characterized by peculiar cytogenetic, ...
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JAK2V617F Allele Burden Measurement in Peripheral Blood of Iranian Patients with Myeloproliferative Neoplasms and Effect of Hydroxyurea on JAK2V617F Allele Burden
... In summary, this is the first study analyzing the JAK2V617F allele burden in Iranians subjects, and our results revealed that the allele burden of the JAK2 V617F mutation differs among the subtypes of ...
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Myeloproliferative neoplasms: From JAK2 mutations discovery to JAK2 inhibitor therapies
... (V617F) mutation (Janus kinase 2), occurring within exon 14 of JAK2 and located on 9p24 is the most frequent mutation in MPN, ranging from roughly 96% in PV to 65% in ET and ...This mutation ...
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MYB deregulation from a EWSR1-MYB fusion at leukemic evolution of a JAK2 V617F positive primary myelofibrosis
... In January 2011, a 64-year-old man was referred to our Department with leukocytosis (WBC 20.100/uL with 71.8 % neutrophils), macrocytic anemia (Hb 11,5 g/dL; MCV 104 fl), splenomegaly, and hepatomegaly. Bone mar- row ...
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The epidemiology and clinical characteristics of myeloproliferative neoplasms in Malaysia
... JAK2 V617F mutation ...the mutation, eight cases of MPN had missing information regarding the molecu- lar studies status and possibly diagnosed based on the BM findings hence the BM morphology is a ...
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