Methylation-independent Expression is a Potential Biomarker Affecting Prognosis in Cytogenetically Normal Acute Myeloid Leukemia

Abnormal expression of has been identified in numerous solid tumors. However, expression and its regulation are little known in acute myeloid leukemia (AML). The purpose of this study was to evaluate the expression and regulation of and the clinical implications of aberration in AML. Real-time quantitative PCR was carried out to detect the level of expression in 138 AML patients and 38 controls. methylation was detected by methylation-specific PCR and bisulfite sequencing PCR. Five public available AML datasets from The Cancer Genome Atlas (TCGA) and Gene Expression Omnibus (GEO) were further analyzed. The level of expression was up-regulated in AML patients compared with controls ( = 0.045). patients had a significantly lower complete remission (CR) rate than patients ( = 0.020). group had a shorter overall survival (OS) and leukemia-free survival (LFS) than group in cytogenetically normal AML (CN-AML) patients ( = 0.007 and 0.012, respectively). Multivariate analysis further confirmed that high expression was an independent risk factor for LFS in CN-AML patients ( = 0.005). However, we found that expression was not associated with the status of its promoter, which was nearly fully unmethylated both in controls and AML patients. Furthermore, our results were validated using the published GEO datasets and TCGA datasets. Our findings suggest that high expression is independently related with unfavorable prognosis in CN-AML.