Low Frequency of C-MPL Gene Mutations in Iranian Patients with Philadelphia-Negative Myeloproliferative Disorders
نویسندگان
چکیده مقاله:
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 frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negative myeloproliferative disorders. Material and Methods Peripheral blood samples from 60 patients with Philadelphia-negative MPD) subgroups ET and PMF) and 25 healthy subjects as control were collected in order to investigate the mutation status of c-MPL and Jak2V617F by using Amplification-Refractory Mutation System (ARMS) and Allele-Specific PCR (AS-PCR), respectively and results were confirmed by sequencing. Results Among the total 60 patients studied, 34 (56.6%) and 1(1.7%) had Jak2V617F and c-MPL mutation, respectively. Patients with Jak2V617F mutation had higher WBC counts and hemoglobin concentration than those without the mutation (p= 0.005, p=0.003). In addition for all healthy subjects in control group, mutation was negative. Conclusions The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations were rare in Iranian patients with Ph-negative MPNs and the low mutation rate should be considered in the design of screening strategies of MPD patients.
منابع مشابه
low 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 frequ...
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 have been reported in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of the present study was to investigate t...
متن کاملPrevalence of MPL W515L/K mutations in Taiwanese patients with Philadelphia-negative chronic myeloproliferative neoplasms.
BACKGROUND The discovery of Janus kinase 2 (JAK2)-V617F has provided important insight into the pathogenesis of Philadelphia-negative chronic myeloproliferative neoplasms (Ph-negative MPNs); however, the etiology of JAK2(V617F)-negative Ph-negative MPN remains unidentified. MPL(W515L) and MPL(W515K) (MPL(W515L/K)) are 2 gain-of-function mutations, which have been found in some Ph-negative MPN p...
متن کاملMolecular pathophysiology of Philadelphia-negative myeloproliferative disorders: beyond JAK2 and MPL mutations.
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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...
متن کاملCharacterization and Prognosis Significance of JAK2 (V617F), MPL, and CALR Mutations in Philadelphia-Negative Myeloproliferative Neoplasms
Background: The discovery of somatic acquired mutations of JAK2 (V617F) in Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) has not only improved rational disease classification and prognostication but also brings new understanding insight into the pathogenesis of diseases. Dos...
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عنوان ژورنال
دوره 5 شماره 1
صفحات 43- 51
تاریخ انتشار 2015-03
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