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

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 JAK2^V617F 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; JAK2^V617Fmutation 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: JAK2^V617Fmutation was present in 33 patients, among whom there were 6 ET (35.3%), 7 PMF (41.2%), and 20 PV cases (100%). MPL^{W515 L/K}mutation was found in only one case of PMF, which was negative for JAK2^V617Fmutation. 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 JAK2^V617Fmutation.