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Year : 2017  |  Volume : 6  |  Issue : 1  |  Page : 86-91

Sequencing myeloproliferative leukemia exon 10 mutations in iranian patients with breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1-negative myeloproliferative neoplasm

1 Thalassemia and Hemoglobinopathy Research Center, Research Institute of Health, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
2 Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran

Correspondence Address:
Najmaldin Saki
Research Center of Thalassemia and Hemoglobinopathy, Health research institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ccij.ccij_11_17

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Context: Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1 (BCR-ABL1)-negative myeloproliferative neoplasms (MPNs), including essential thrombocythemia (ET), polycythemia vera (PV), and primary myelofibrosis (PMF), are distinguished by the dysregulated Janus kinase (JAK)-signal transducer and activator of transcription functionality, abnormal hematopoiesis, and spontaneous proliferation. Moreover, a mutation in JAK2V617F as well as myeloproliferative leukemia (MPL) mutations have been reported in these patients, which could be important in the pathogenesis of diseases. MPL plays a role in the development of megakaryocytes and platelets as well as self-renewal of hematopoietic stem cells. Aims: The aim of the present study was to investigate the frequency of MPL mutations in patients with BCR-ABL1-negative MPNs. Settings and Design: This study was a cross-sectional study conducted as an analytical, descriptive review. Subjects and Methods: This study was performed on 54 newly diagnosed patients with BCR-ABL1-negative MPN (PV, ET, and PMF) who referred to Shafa Hospital, Ahvaz, Iran. Five milliliter whole blood was drawn from these patients; JAK2V617Fmutation and mutations in exon 10 of MPL gene were investigated using polymerase chain reaction and DNA sequencing techniques following the isolation of mononuclear cells from the blood.Statistical Analysis: All the data were presented as mean ± standard deviation and were analyzed by SPSS. Results: JAK2V617Fmutation was present in 33 patients, among whom there were 6 ET (35.3%), 7 PMF (41.2%), and 20 PV cases (100%). MPLW515 L/Kmutation was found in only one case of PMF, which was negative for JAK2V617Fmutation. The prevalence of these mutations was 1.8%, and the patient had splenomegaly with lower white blood cell counts and hemoglobin concentration than normal. Conclusions: Based on the results, MPL mutations rarely occur in patients with MPN. These mutations could be co-expressed with JAK2 mutations and might be helpful for detecting MPN patients with no BCR-ABL1 translocation or JAK2V617Fmutation.

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