Abstract
Purpose :
To map the metabolic variations in patients with invasive (primarily enucleated eyes with high-risk histopathological features) and non-invasive (eyes salvaged with treatment) unilateral retinoblastoma (RB) using nuclear magnetic resonance (NMR) - based serum metabolomics.
Methods :
Quantification of differential metabolites in the serum obtained from 9 patients with invasive and 4 with non-invasive unilateral RB along with 13 controls (no retinal pathology) was carried out using 1H NMR spectroscopy.
Results :
A total of 72 metabolites, such as organic acids, amino acids, carbohydrates, and others were identified in the serum obtained from 9 patients with invasive and 4 with non-invasive unilateral RB. Partial least-squares discriminant analysis (PLS-DA) models depicted distinct grouping of invasive, non-invasive RB patients, and controls. Differential metabolic fingerprints were observed for invasive and non-invasive RB patients based on their bio-statistical analyses with respect to controls. Remarkable perturbation was observed among various metabolites such as 4-aminobutyrate, 2-phosphoglycerate, O-phosphocholine, proline, Sn-glycero-3-phosphocholine (Sn-GPC) and O-phosphoethanolamine in non-invasive and invasive RB patients with most of the effects being heightened in latter group. Metabolic changes unique to invasive and non-invasive RB patients were also observed.
Conclusions :
Metabolites identified in the serum of patients with invasive and non-invasive RB may aid in advancing our knowledge about RB tumor biology. Differential aberrant metabolic variations in patients with invasive RB compared to those with non-invasive RB may guide towards the decision of enucleation versus globe salvage.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.