comparisions of arms-pcr and as-pcr for the evaluation of jak2v617f mutation in patients with non-cml myeloproliferative neoplasms
نویسندگان
چکیده
background and objectives: jak2 is a nonreceptor 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. in this study we compared two molecular methods namely arms-pcr and as-pcr for the evaluation of jak2v617f mutation in patients with myeloproliferative neoplasms. material and methods: in this study we evaluated jak2 mutation in 89 patients with myeloproliferativeneoplasm (mpns) by simple randomized sampling. the mutation was detected by arms-pcr and as-pcr in patients.three dna samples were sequenced for conformation of the above techniques. results: the jak2 v617f mutation was detected in 86.6% (26/30) of patients with polycythemia vera and 61.5% (8/13) of patients with idiopathic myelofibrosis. none of 31 cml patients were detected by arms-pcr and as-pcr. in essential thrombocythemia using arms-pcr and as-pcr 46.6% (7/15) and 53% (8/15) of patients were positive, respectively. the mutation was confirmed by sequencing. conclusions: the results of the study showed that similarity with other studies by two techniques and detection of the jak2v617f mutation may depend on the molecular technique used. also, jak2 mutation detection is an appropriate tool for differential diagnosis of non-cml myeloproliferative neoplasms from benign condition like reactive erytrocytosis and thrombocytosis.
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 کاملMyeloproliferative Neoplasms Associated with Mutation in JAK2V617F and Tyrosine Kinase Inhibitors as Therapeutic Strategy
MPNs including a heterogeneous group of clonal or oligoclonal hamtopathies characterized by proliferation and accumulation of mature myeloid cells. JAK2 tyrosine kinase mutation is the most common molecular lesion identified in 90% of cases. JAK2 is involved in EPO signaling pathway, and mutations in it lead to EPO-independent spontaneous phosphorylation. Most tyrosine kinase inhibitors (TKI) a...
متن کاملمقایسه دو روش ARMS-PCR و AS-PCR در ارزیابی جهش JAK2V617F در نئوپلاسمهای میلوپرولیفراتیو کلاسیک غیر CML
Background: JAK2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. This 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. In this study we compared the amplification refractory mutation (ARM...
متن کاملmyeloproliferative neoplasms associated with mutation in jak2v617f and tyrosine kinase inhibitors as therapeutic strategy
mpns including a heterogeneous group of clonal or oligoclonal hamtopathies characterized by proliferation and accumulation of mature myeloid cells. jak2 tyrosine kinase mutation is the most common molecular lesion identified in 90% of cases. jak2 is involved in epo signaling pathway, and mutations in it lead to epo-independent spontaneous phosphorylation. most tyrosine kinase inhibitors (tki) a...
متن کاملارزیابی جهش JAK2V617F در نئوپلاسم های میلوپرولیفراتیو کلاسیک غیر CML به روش ARMS-PCR
Background and Aim : Myeloproliferative neoplasms are clonal and heterogeneous disorders of hematopoietic stem cells lead to increase of one or more cell lines in the blood. Recently, the acquired mutation JAK2 V617F has been described in the majority of patients with myeloproliferative neoplasms (MPNs).This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the J...
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عنوان ژورنال:
international journal of hematology-oncology and stem cell researchجلد ۴، شماره ۲، صفحات ۱۰-۱۳
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