Männlein J, Sterlacci W (2026)
Publication Type: Journal article
Publication year: 2026
Book Volume: 18
Article Number: 433
Journal Issue: 3
Purpose: To develop a transparent and adaptable methodological framework for the analysis of microsatellite status using Next Generation Sequencing (NGS), addressing current limitations in clinical implementation. Methods: Microsatellite status was assessed using NGS with a custom-designed panel. The approach was validated against polymerase chain reaction (PCR) and immunohistochemistry (IHC) results in a cohort of 32 patients with various tumor entities. A Python-based analysis pipeline was developed to process raw sequencing data and quantify mutational burden within microsatellite regions. Results: The proposed method demonstrated 100% concordance with PCR and 90.32% concordance with IHC results. The framework enabled quantitative assessment of microsatellite instability. Conclusions: This proof-of-concept study demonstrates reliable determination of microsatellite status. The transparent and panel-adaptable framework offers flexibility for clinical implementation and provides a robust foundation for further validation in larger cohorts and across diverse tumor entities.
APA:
Männlein, J., & Sterlacci, W. (2026). An Algorithmic Approach for Quantitative Determination of Microsatellite Status in NGS-Based Cancer Diagnostics. Cancers, 18(3). https://doi.org/10.3390/cancers18030433
MLA:
Männlein, Josefin, and William Sterlacci. "An Algorithmic Approach for Quantitative Determination of Microsatellite Status in NGS-Based Cancer Diagnostics." Cancers 18.3 (2026).
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