Ameloblastoma Diagnosis From Serum Metabolic Profiling.

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INTRODUCTION: Ameloblastoma (ABM) is an aggressive, localized, infiltrating epithelial odontogenic neoplasm. The molecular pathogenesis of ABM is unknown, and studying its metabolic profile may allow the identification of biomarkers relevant to the diagnosis and prediction of pathology.

METHODS: Metabolomic analysis of 41 serum samples from 21 ABM patients and 20 healthy controls (HCs) was performed using gas chromatography-mass spectrometry (GC-MS). Using LASSO regression and receiver operating characteristic analysis, biomarker metabolites were screened and validated, and a diagnostic model was established. Tissue samples from ABM patients were analyzed using BRAF V600E-specific immunohistochemistry to investigate the impact of the BRAF V600E mutation on metabolic reprogramming in ABM.

RESULTS: A total of 73 metabolites were identified in the samples. The ABM had a total of 32 dysregulated metabolites, of which 30 were downregulated. A diagnostic panel of 10 metabolites was then generated. The panel accurately identified ABM with 100% sensitivity, 100% specificity, and an AUC of 1.00. In addition, the presence of the BRAF-V600E mutation in ABM is associated with increased serum glutamine levels.

CONCLUSION: This study identified distinct metabolic characteristics of ABM and established a diagnostic model. Our research also shows that BRAF-V600E may contribute to metabolic alterations in ABM.