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Biology subjects

Rosetti, F.

Publications and source records attributed to Rosetti, F..

2 recordsLinked to original sources
bioRxiv2026

A novel risk score model based on seven protein-coding genes and three pseudogenes predicts overall survival in acute myeloid leukemia

Acute myeloid leukemia (AML) is the most common hematologic malignancy in adults and is associated with poor clinical outcomes. Accurate prognostic stratification remains essential for improving patient management and identifying potential therapeutic targets. Here, we analyzed RNA-seq data from the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) and The Cancer Genome Atlas (TCGA) cohorts to identify genes associated with overall survival (OS) in patients with AML. Using penalized regression modeling and integrative survival analyses, we identified a prognostic signature composed of seven protein-coding genes (ACOT7, SLC35E4, SELPLG, CCND3, RRAS, ITGAX, and COMTD1) and three processed pseudogenes (FDPSP2, UBE2V1P13, and AL158214.1) consistently associated with OS across independent AML cohorts. Based on these genes, we developed a novel risk score model that stratified AML patients into low- and high-risk groups with significantly different survival outcomes. The model demonstrated reproducible prognostic performance in TARGET and TCGA cohorts. In addition, several genes included in the prognostic signature were significantly dysregulated in AML compared with healthy samples. Functional enrichment analyses further revealed that high-risk AML was associated with suppression of translational and RNA-processing pathways, together with cohort-specific enrichment of metabolic and immune-related programs. Overall, this study presents a novel prognostic risk score integrating protein-coding genes and pseudogenes that robustly predicts OS in AML, providing a framework for improved prognostic stratification and potential biological insights into AML progression.

Cancer Biology↗
bioRxiv2025

Gene expression profiling of dendritic cell tolerance dysfunction in women with Systemic lupus erythematosus

Dendritic cells (DCs) are central regulators of immune tolerance, and disturbances in their phenotype and function contribute to the breakdown of self-tolerance in systemic lupus erythematosus (SLE). Tolerogenic DCs (tolDCs), which suppress autoreactive responses and promote peripheral tolerance, are a promising therapeutic focus in autoimmune diseases. Here, we analyzed the transcriptional profiles of in vitro generated DCs derived from monocytes of individuals with SLE and healthy controls to identify disease-specific disruptions in tolerance associated pathways. Interferon stimulated genes (ISGs) emerged as dominant markers across all cellular contexts, with monocytes exhibiting the most substantial enrichment; key ISGs (IFI27, IFI44L, USP18, IFI6) acted as central hubs in regulatory networks, underscoring their diagnostic and pathogenic significance. In tolDCs from SLE donors, lipid metabolism pathways were selectively altered, suggesting impaired synthesis of pro-resolving lipid mediators. Additionally, diminished IL10RA expression and dysregulated IRF4 activity in SLE moDCs indicated intrinsic defects in IL-10 mediated tolerogenic differentiation. Together, these findings suggest that interferon driven transcriptional rewiring, impaired IL-10 signaling, and aberrant lipid metabolic programming converge to compromise DCs tolerogenic capacity in SLE. This highlights key mechanistic pathways that could be targeted to restore immune tolerance and reduce chronic inflammation.

immunology↗