Frequency of JAK2 V617F Mutation Detected by Quantitative Allele Specific Amplification (QASA) in Northeast Thailand
Keywords:
JAK2V617F, Quantitative Allele Specific Amplification (QASA), real-time quantitative polymerase chain reaction (qRT-PCR)Abstract
Background: The JAK2 V617F mutation has been described as a frequent genetic event among a majority of patients with Myeloproliferative neoplasms (MPNs) including Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Primary Myelofibrosis (PMF). Its frequency varies in different populations, but there are no data from northeast Thailand. Objective: Therefore, we aim to report the JAK2 V617F mutation frequency and laboratory correlation in northeast Thailand patients. Methods: This study included retrospective reviews of all hematologist patients requested to test for JAK2V167F mutations from Srinagarind and Khon Kaen hospitals, the main tertiary medical center in the northeastern region Thailand. Collected data from January 2017 to January 2021. 418 Peripheral blood and bone marrow samples were analyzed by qRT-PCR using the Quantitative Allele Specific Amplification (QASA) JAK2V617F kit. Results: 418 patients were referred by physicians for JAK V617F mutation analysis. In this group, 101 (24.17%) were positive for the JAK2V617F mutation, whereas 317 (75.87%) patients were negative for the JAK2V617F mutation. The JAK2V617F mutation positive group (101 patients) included 46 (45.54%) patients with PV, 39 (38.61%) patients with ET, 11 (10.90%) patients with primary myelofibrosis (PMF), and 5 (4.95%) patients with unclassified MPNs. Conclusions: The frequency of the JAK2V617F mutation in our study is compatible with previous reports. JAK2V617F mutation screening can be incorporated in the initial evaluation of patients suspected of having MPNs. Detection of JAK2V617F is of diagnostic significance, and quantification of this mutation is also useful in monitoring patients as a residual disease marker.
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