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Low frequency of c-MPL gene mutations in Iranian patients with Philadelphia-negative myeloproliferative disorders.

Ghotaslou A, Nadali F, Chahardouli B, Alizad Ghandforosh N, Rostami SH, Alimoghaddam K, Ghavamzadeh A - Iran J Ped Hematol Oncol (2015)

Bottom Line: The results were confirmed by sequencing.Among 60 patients, 34 (56.6%) and 1(1.7%) had Jak2V617F and c-MPL mutation, respectively.The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations are 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.

View Article: PubMed Central - PubMed

Affiliation: MS.c Student , Department of Hematology,School of Allied Medical Sciences , Tehran university of Medical Sciences, Tehran , Iran.

ABSTRACT

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 the frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negativemyeloproliferative disorders.

Material and methods: Peripheral blood samples were collected from 60 patients with Philadelphia-negative MPD) Subgroups ET and PMF) and 25 healthy subjects as control group. The mutation status of c-MPL and Jak2V617F were investigated by using Amplification-refractory mutation system (ARMS) and Allele-Specific PCR (AS-PCR), respectively. The results were confirmed by sequencing.

Results: Among 60 patients, 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, mutations were negative.

Conclusions: The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations are 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.

No MeSH data available.


Related in: MedlinePlus

Result of gene sequensing in patient with W515R mutation in c-MPL gene, from right to left wild type and mutant allele
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Figure 3: Result of gene sequensing in patient with W515R mutation in c-MPL gene, from right to left wild type and mutant allele


Low frequency of c-MPL gene mutations in Iranian patients with Philadelphia-negative myeloproliferative disorders.

Ghotaslou A, Nadali F, Chahardouli B, Alizad Ghandforosh N, Rostami SH, Alimoghaddam K, Ghavamzadeh A - Iran J Ped Hematol Oncol (2015)

Result of gene sequensing in patient with W515R mutation in c-MPL gene, from right to left wild type and mutant allele
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4402155&req=5

Figure 3: Result of gene sequensing in patient with W515R mutation in c-MPL gene, from right to left wild type and mutant allele
Bottom Line: The results were confirmed by sequencing.Among 60 patients, 34 (56.6%) and 1(1.7%) had Jak2V617F and c-MPL mutation, respectively.The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations are 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.

View Article: PubMed Central - PubMed

Affiliation: MS.c Student , Department of Hematology,School of Allied Medical Sciences , Tehran university of Medical Sciences, Tehran , Iran.

ABSTRACT

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 the frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negativemyeloproliferative disorders.

Material and methods: Peripheral blood samples were collected from 60 patients with Philadelphia-negative MPD) Subgroups ET and PMF) and 25 healthy subjects as control group. The mutation status of c-MPL and Jak2V617F were investigated by using Amplification-refractory mutation system (ARMS) and Allele-Specific PCR (AS-PCR), respectively. The results were confirmed by sequencing.

Results: Among 60 patients, 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, mutations were negative.

Conclusions: The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations are 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.

No MeSH data available.


Related in: MedlinePlus