Detection of the JAK2V617F mutation with the Ipsogen MutaScreen kit: absence of JAK2V617F does not mean absence of myeloproliferative neoplasm.
نویسندگان
چکیده
Michael R. Lieber Norris Comprehensive Cancer Center and Departments of Pathology, Biochemistry & Molecular Biology, Molecular Microbiology & Immunology, and Biological Sciences (Section of Molecular and Computational Biology), University of Southern California Keck School of Medicine, Los Angeles, CA Contribution: A.G.T. designed and performed research and wrote the manuscript; A.Y. designed and performed research; and D.M.W. and M.R.L. revised the manuscript.
منابع مشابه
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...
متن کاملDoes increasing the JAK2V617F assay sensitivity allow to identify more patients with MPN?
The detection of the JAK2V617F mutation has become an essential tool in BCR-ABL1-negative myeloproliferative neoplasms (MPNs) diagnosis, as it is present in 95% of polycythemia vera (PV) patients and 60% of essential thrombocytemia (ET) or myelofibrosis patients. JAK2V617F-positive MPNs are different from other hematological malignant disease in that, although the JAK2V617F mutation is consider...
متن کاملLow Frequency of C-MPL Gene Mutations in Iranian Patients with Philadelphia-Negative Myeloproliferative Disorders
Background Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene were described in patients with Philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of present study was to investigate the fre...
متن کاملImpact of JAK2V617F Mutational Status on Phenotypic Features in Essential Thrombocythemia and Primary Myelofibrosis
OBJECTIVE The JAK2V617F mutation is present in the majority of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF). The impact of this mutation on disease phenotype in ET and PMF is still a matter of discussion. This study aims to determine whether there are differences in clinical presentation and disease outcome between ET and PMF patients with and without the JAK2V61...
متن کاملThe Burden of JAK2V617F Mutated Allele in Turkish Patients With Myeloproliferative Neoplasms
BACKGROUND Studies regarding the impact of JAK2V617F allele burden on phenotypic properties and clinical course in Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPNs) have reported variable results. We aimed to analyze the association of mutated JAK2V617F allele burden with laboratory characteristics and clinical phenotype in Turkish patients (107 essential thrombocythemia (ET...
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ورودعنوان ژورنال:
- Blood
دوره 116 11 شماره
صفحات -
تاریخ انتشار 2010