VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • Real-world evaluation of microsatellite instability detection via targeted NGS panels in routine molecular diagnostics [Elektronski vir]
    Škerl, Petra, doktorica biologije ...
    Microsatellite instability (MSI) is a clinically important biomarker for predicting responses to immune checkpoint inhibitors and identifying individuals with Lynch syndrome. Although MSI detection ... has been incorporated into Illumina’s next-generation tumor sequencing workflows, interpretation of the results remains challenging due to the absence of standardized thresholds and reporting criteria. In this retrospective study, we assessed the performance ofMSI detection using Illumina’s targeted NGS panels—TruSight Tumor 170 and TruSight Oncology 500. The NGS-based MSI results were compared to those obtained by the reference method, MSI-PCR, across multiple tumor types in a real-world cohort of 331 cancer patients. The NGS method demonstrated high concordance overall (AUC = 0.922), though sensitivity was lower in colorectal cancers (AUC = 0.867) due to broader score variability and overlapping distributions. Our findings support the clinical utility of Illumina’s NGS-derived MSI scores for identifying MSI-H tumors, with a recommended MSI score cut-off value of 13.8%. Additionally, a borderline group was introduced, defined by anMSI score ranging from 8.7% to <13.8%. Within this range, the integration of TMB into theMSI classification workflow significantly improves diagnostic accuracy. For samples that remain inconclusive, orthogonal confirmation usingMSI-PCR is advised to ensure accurateMSI classification.
    Vir: International journal of molecular sciences [Elektronski vir]. - ISSN 1422-0067 (Vol. 26, no. 15, 2025, str. 7138-1-7138-17)
    Vrsta gradiva - e-članek ; neleposlovje za odrasle
    Leto - 2025
    Jezik - angleški
    COBISS.SI-ID - 246495747

    Povezava(-e):

    https://www.mdpi.com/1422-0067/26/15/7138
    DOI

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