Abstract / Summary
Abstract Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy, but despite therapeutic advances, relapse remains a major challenge. Identifying biomarkers that reflect disease status and prognosis may help improve disease assessment and patient management. This study investigated the expression and clinical relevance of the transcription factor FOXO1 and the long non-coding RNA LINC01018 in pediatric B-cell precursor ALL. A cross-sectional case-control study was performed on 52 independent pediatric patients with BCP-ALL representing three disease phases (diagnosis, remission, and relapse) and 17 age-matched controls. Expression levels in bone marrow or peripheral blood were quantified by real-time PCR. FOXO1 expression was significantly higher at diagnosis than in controls (fold change 5.14; p = 0.04) and was lower in the remission (fold change 0.20; p = 0.005) and relapse (fold change 0.59; p = 0.04) groups than at diagnosis. In contrast, LINC01018 was significantly lower in the diagnosis (fold change 0.15; p = 0.02) and relapse (fold change 0.03; p = 0.004) groups than in controls, whereas expression was higher in the remission group than at diagnosis but remained below control levels (fold change 0.34; p = 0.04). A significant inverse correlation between FOXO1 and LINC01018 expression was observed in the relapse group ( r = − 0.74; p = 0.005). In the relapse group, FOXO1 expression showed a positive exploratory association with blast-cell percentage ( r = 0.82, p = 0.03). In addition, in the diagnosis group, LINC01018 expression showed an inverse association with hemoglobin levels ( r = − 0.70, p = 0.02). External validation using GSE13159 provided independent support for elevated FOXO1 expression in ALL and BCP-ALL-like samples compared with controls, whereas LINC01018 did not reach statistical significance in this dataset. Opposing expression patterns of FOXO1 and LINC01018 were associated with disease phases in pediatric B-cell precursor ALL. FOXO1 dysregulation was independently supported in GSE13159, warranting further evaluation as a candidate disease-status biomarker, whereas the LINC01018 findings were not reproduced externally and therefore require independent validation before their relevance to disease monitoring or progression assessment can be established.