International Journal of Molecular Sciences · 12 authors, 6 centres
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Using untargeted metabolomics on peripheral blood from 110 uveal melanoma patients and 46 controls across discovery and replication cohorts, this study found that uveal melanoma patients exhibit a distinct metabolic phenotype compared to controls, with annotated metabolites indicative of associations with malignant processes.
This pilot cohort study analyzed peripheral blood metabolite abundances from 159 participants using ultra high-pressure liquid chromatography-orbitrap mass spectrometry (UHPLC-MS), divided into a discovery cohort (n=114) and replication cohort (n=45). The cohort comprised 110 uveal melanoma patients classified by secondary driver mutations (BAP1, SF3B1, EIF1AX) and 46 non-uveal melanoma controls with common ophthalmic diseases. Metabolite abundances were normalized using internal standards and Metchalizer, with good concordance confirmed by biological and technical replicate correlation analyses. Unsupervised dimensionality reduction analyses showed no systemic batch effects or outlier clusters based on disease or storage time. The authors report a distinct metabolic phenotype in uveal melanoma patients relative to controls, with annotated metabolites suggestive of malignant processes. 63.0 years for patients).
