Meningiomas are among the most common tumors affecting an adult’s central nervous system and they exhibit significant histopathologic and molecular heterogeneity. The World Health Organization (WHO) divides human meningiomas into three different histologic grades: grade I (benign), grade II (atypical), and grade III (malignant), which generally correspond with prognosis and determine therapy. However, histopathologic heterogeneity, interobserver variability, and ongoing revisions to meningioma grading criteria may complicate grading. To date, there is minimal data regarding biomarkers that can be used for early diagnostic and prognostic purposes of these tumors. Metabolic and lipidomics profiling of biological specimens is informative for investigating disease pathobiology and identifying potential surrogate markers in different tumor types. Fabry disease is a rare X-linked lysosomal storage disorder (LSD) caused by α-galactosidase A (α-GAL A) deficiency. This deficiency results in the progressive accumulation of glycosphingolipids, mostly globotriaosylceramide (Gb3), globotriaosylsphingosine (lyso-Gb3), as well as galabiosylceramide (Ga2) and their isoforms/analogs in the vascular endothelium, nerves, cardiomyocytes, renal glomerular podocytes, and biological fluids. Targeted metabolomics analysis using known compounds can limit conclusive characterization of disease conditions which could be addressed using untargeted or broad profiling methods. Advancement of high-resolution mass spectrometry technologies have facilitated ‘discovery mode’ / untargeted analysis with the hopes of translating biomarkers to new clinical tests which will improve patient care. Combination of machine learning with multi-omics will enable improved biomarker discovery and thus better translation to clinical diagnostics. The presentation will discuss the analysis of pathology grade specimens in the study of brain tissue biopsies in Meningioma and kidney biopsies from Fabry Disease using advanced mass spectrometry approaches.

Lipidomics and Metabolomics in Clinical Pathology of Tissue Biopsies: Perspectives in Meningioma and Fabry Disease

ACS Fall 2021

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