MOLECULAR CHARACTERIZATION OF TUMOR HETEROGENEITY: A PATHOLOGICAL GENOMICS APPROACH

Abstract

Systemic Lupus Erythematosus (SLE) is a persistent multisystem autoimmune disorder characterized by uncontrolled exacerbations and having heterogeneous clinical manifestations, which requires meticulous assessment of the activity. This research study aimed to determine the diagnostic and prognostic effectiveness of a set of molecular biomarkers; cytotokines, complement proteins, autoantibodies, and gene-expression signatures in the differentiation between active and inactive phases of systemic lupus erythematosus (SLE). The findings showed significant changes in IL-6, TNF-a, IFN-g and anti-dsDNA titer during active disease, but complement C3 and C4 were reduced tremendously indicating continued inflammation due to immune-complexes. Transcriptomic profiling revealed an augmented interferon-stimulated gene (ISG) signature, which is largely connected to flare episodes. Autoantibodies, including anti-Sm and anti-RNP, were correlated significantly with systemic and renal involvement as important to the organ-specific classification of risks. All these data points to the fact that the combination of many molecular indicators increases the accuracy of disease surveillance, allows to predict when a disease will enter a flare, and helps the treatment plan. The article highlights the potential of a biomarker-informed evaluation as one of the pillars of precision medicine in SLE treatment.