Investigation of the expression and potential mechanistic role of BYSL in acute myeloid leukemia.

[UNLABELLED] , located on chromosome 6p21.1, is implicated in tumor progression, but its role in acute myeloid leukemia (AML) remains unclear. expression was analyzed using public databases and AML clinical samples. A prognostic model incorporating was constructed and validated. Functional assays were performed by knocking down in AML cell lines to evaluate proliferation, apoptosis, and cell cycle regulation. To investigate the underlying mechanism, Gene set enrichment analysis (GSEA), Western blotting and chromatin immunoprecipitation-quantitative polymerase chain reaction (ChIP-qPCR) assays were performed. was significantly overexpressed in AML, with high expression correlating with severe anemia and poor overall survival. A risk model incorporating along with clinical factors (age, cytogenetic risk, transplantation, gene mutations) demonstrated strong predictive accuracy (c-index = 0.754). Functional assays showed that knockdown significantly inhibited cell proliferation, reduced colony-forming ability, and induced cell cycle arrest at the G0/G1 phase. Mechanistically, suppression notably decreased PI3K and AKT phosphorylation, implicating this signaling pathway. Additionally, ChIP-qPCR experiments confirmed that is transcriptionally regulated by through direct promoter binding. Our findings support a role for in AML pathogenesis, potentially through modulation of the PI3K/AKT signaling pathway. Transcriptionally regulated by , may serve as a prognostic biomarker and warrants further investigation as a potential therapeutic target.

[SUPPLEMENTARY INFORMATION] The online version contains supplementary material available at 10.1007/s10238-026-02122-6.