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Multi-Omic Analyses for Biomarker Discovery and Characterization of PNST

  • Antonella Potenza,
  • Tatiana Carrozzini,
  • Gemma Gorla,
  • Giuliana Pollaci,
  • Laura Gatti

摘要

The search for biomarkers represents a crucial step for identifying putative pathogenic mechanisms or therapeutic targets. Indeed, a biomarker is considered as the most objective and quantifiable medical sign that can be reproducibly measured through current scientific approaches. Based on their specific purpose, biomarkers can be classified as diagnostic, monitoring, predictive, and prognostic ones. Liquid biopsy appears to be a game changer that may revolutionize current cancer patient management. Unlike the invasive and costly conventional tissue biopsies, which only provide a snapshot of gene/protein expression at a given time and location, liquid biopsy may be used for early diagnosis, monitoring tumor dynamics/progression over time, and detecting metastasis development and treatment responses. Liquid biopsy is quickly moving from research into clinical practice being noninvasive and easily repeatable. Peripheral blood is the most frequently used biological matrix and constitutes an optimal source for biomarker detection. In addition, urine, cerebrospinal fluid, tissue biopsies, saliva, milk, seminal fluid, tears, as well as pleural fluid may turn as useful biofluids, considering that a biomarker provides more useful indications if it is identified in close proximity to the site where damage occurs and the origin of the disease is presumed. Thanks to the quick technological progress of omic sciences investigating the entire genome/exome/proteome/metabolome/lipidome/asset, the amount of biomarkers analyzed in a single experiment has become even greater, producing a huge volume of data in a reduced time spam. Omic studies aim to obtain a comprehensive understanding of the biological systems with the final goal of associating molecular features with clinical information, by supplying predictive and prognostic models in a more accurate and faster way as compared to standard clinical approaches.