The roles of genetic mutation and cytokines/chemokines in immune response and their association with uveal melanoma patient outcome
Year: 2024
Type: article
Abstract: Effect of tumor mutation and cytokines/chemokines on uveal melanoma (UM) immune response and outcome requires investigation. We analyzed the relationship between genetic mutations and UM survival in 188 patients from cbioportal. We estimated fractions of immune cell populations in 80 UM tumors based on RNA sequence gene expression from TCGA and evaluated the association between genetic mutation and cytokine/chemokine expression and immune cell subsets. We investigated the association of immune cell populations and chemokines/cytokines with patient survival. Patients with mutated GNAQ or SF3B1 genes had better progression-free survival (PFS), disease-specific survival (DSS), and overall survival (OS) than those with wild-type genes. However, patients with mutated BAP1 had worse PFS, DSS, and OS than those with wild-type BAP1. BAP1 gene mutation remained significant for OS after adjusting for age, sex, and disease stage. Cytokines/chemokines expression levels were positively associated with immune killer cell infiltration and negatively correlated with B cell and dendritic cell populations. Increased levels of PDCD1, TNF, IL6, CXCL9, and CXCL10 were correlated with poorer OS. Elevated CD8+ T cell populations were associated with worse OS. Our findings suggest that cytokines/chemokines expression levels, immune cell subsets, and mutation status can be used as biomarkers to select patients for immunotherapy.
Source: Heliyon
Authors: Yong liu, Yeen Huang, Chengzhi Zhao, Xinke Zhou, Jiachun Lu, Shenying Fang
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,100
Award: G6545984676
OpenAlex ID: W4402493919