Abstract
Objective: Acute myeloid leukemia is caused by the clonal proliferation of undifferentiated myeloid hematopoietic precursors. AML prognosis is highly involved in the treatment response and is determined by mutations in several genes such as N-RAS. This study aims to identify the distribution of common N-RAS mutations (codons 12, 13, and 61) in AML patients using the HRM method and confirm this method’s efficiency for mutation detection by comparing its results with the sequencing data as the Gold standard method. Methods:Peripheral blood samples were taken from 50 newly diagnosed AML patients. Mononuclear cells were isolated from samples, and DNA was extracted. Then, mutation detection was investigated using the HRM method. Efficacy of the HRM method in mutation detection was determined in comparison with direct sequencing.Results:N-RAS mutations were detected in 7 of the 50 samples (14%). Most of the mutations were found in codon 12 (57.14%), and 28.57% and 14.28% of mutations were in codons 61 and 13, respectively. There was no statistically significant association between patients’ demographic data and HRM results. Conclusion: According to mutation detection results and the HRM results confirmation with the sequencing method, this method can be introduced as an efficient, low-cost, and fast method for detecting common mutations.
Highlights
Leukemia is a group of malignancies characterized by excessive production of blood cells, which has multiple subtypes based on the kind of affected blood stem cells or its acute and chronic forms (Hao et al, 2019)
This study aims to identify the distribution of common N-RAS mutations in acute myeloid leukemia (AML) patients using the High resolution melting (HRM) method and confirm this method’s efficiency for mutation detection by comparing its results with the sequencing data as the Gold standard method
We evaluated the efficiency of the HRM method to detect N-RAS mutations in comparison with direct sequencing
Summary
Leukemia is a group of malignancies characterized by excessive production of blood cells, which has multiple subtypes based on the kind of affected blood stem cells or its acute and chronic forms (Hao et al, 2019). One of the most aggressive types of leukemia is acute myeloid leukemia (AML), which accounts for 1.1% of all leukemia cases and 1.9% of leukemia deaths(Miller et al, 2021). Genetic factors such as somatic mutations in blood progenitor cells are identified as risk factors for AML (Schlenk et al, 2008). These mutations are divided into two categories (Speck and Gilliland, 2002): mutations occurred in tyrosine kinase receptors such as Ras family genes and FLT3 gene, which enhance hematopoietic progenitor cells’ growth, survival, and proliferation (Pedersen-Bjergaard et al, 1988; Kitayama et al, 1996); and transcription factors genes mutations that prevent cell differentiation (Fröhling et al, 2005). In AML, some studies reported N-RAS mutations as a favorable prognostic marker (Paquette et al, 1993), whereas others found its association with either poor patient outcome (Bowen et al, 2005) or no association with AML prognosis.Asian Pacific Journal of Cancer Prevention, Vol 23 125
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