Abstract
Myeloproliferative neoplasms (MPNs) are a group of clonal haematopoietic stem cell disorders characterized by the proliferation of one or more myeloid cell lineages. According to WHO classification, the Janus associated kinase 2 (JAK2) V617F mutation is one of the major diagnostic criteria in BCR-ABL1 negative myeloproliferative neoplasms. The aim of this study is to detect the JAK2 (V617F) mutation in patients with myeloproliferative neoplasms to get accurate diagnosis and proper management. A total of 90 clinically diagnosed MPN patients attending to Department of Clinical Haematology, Yangon General Hospital were enrolled in this study. The mean age was 53.4 ± 14 years which ranged from 16 to 81 years old and male and female ratio was 2.4:1. The identification of JAK2 (V617F) point mutation was found to be positive in 44/90 MPN patients (48.9%). According to MPN subtypes, the JAK2 mutation positivity was found in 19 out of 46 polycythemia vera patients (41.3%), 17 out of 25 essential thrombocythemia patients (68%), 8 out of 15 primary myelofibrosis patients (53.3%), 0 of 4 others myeloproliferative neoplasms (0%). Confirmation of each of nine JAK2 mutation positive and negative samples was done by Sanger sequencing. The arterial or venous thrombotic attack was found in 32/44 JAK2 mutation positive cases (72.7%) and 12/44 JAK2 mutation negative cases (27.3%). The association between thrombotic attack and presence of JAK2 mutation was statistically significance with p = 0.000. The diagnosis of myeloproliferative neoplasms mainly relies on the molecular genetics according to WHO classification. The Allele specific PCR reaction is sensitive, simple test and relatively cost-effective. Therefore, the identification of JAK2 (V617F) somatic point mutation by AS-PCR should be implemented as a routine diagnosis procedure for patients with chronic and suspected myeloproliferative neoplasms.
Highlights
InformationMyeloproliferative neoplasm (MPN), known as the former Myeloproliferative disorder (MPD), is a group of various chronic myeloid cancer: mainly consisting of the Philadelphia chromosome positive (Ph+) and Philadelphia chromosome negative (Ph−)
The data indicated that three parameters of red cell (Hb, Hct, red blood cell (RBC)) in polycythemia vera (PV) showed statistically significant difference to others: Hb, Hct, RBC values were higher compare to essential thrombocythemia (ET), primary myelofibrosis (PMF) and MPNun (p = 0.000)
The total white blood cell (WBC), neutrophil and platelet count showed increased in ET and PMF than PV and MPNun (p = 0.001, p = 0.001, p = 0.000) respectively
Summary
InformationMyeloproliferative neoplasm (MPN), known as the former Myeloproliferative disorder (MPD), is a group of various chronic myeloid cancer: mainly consisting of the Philadelphia chromosome positive (Ph+) and Philadelphia chromosome negative (Ph−). The mutation is somatic and has not been detected in any normal individuals or patients with reactive myeloproliferation, lymphoid disorders, or solid tumors [6] [7] [8] [9] [10]. This mutation is present in most (97%) of patients with PV, approximately 50% of each of those with ET and PMF, 20% of those with atypical MPNs, and 0% of those with chronic myelogenous leukemia (CML) [11]. This study aims to identify the JAK2 mutation in patients with chronic and suspected MPN and detection of the mutation is helpful in differential diagnosis, prognosis, and predication of therapeutic response
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