Noninvasive detection of microsatellite instability in patients with endometrial cancer, 2023 (8.359Mb)
Noninvasive detection of microsatellite instability in patients with endometrial cancer, 2023. Taula 1 (20.85Kb)
The analysis of mismatch repair proteins in solid tissue is the standard of care (SoC) for the microsatellite instability (MSI) characterization in endometrial cancer (EC). Uterine aspirates (UAs) or circulating-DNA (cfDNA) samples capture the intratumor heterogeneity and provide a more comprehensive and dynamic molecular diagnosis. Thus, MSI analysis by droplet-digital PCR (ddPCR) in UAs and cfDNA can provide a reliable tool to characterize and follow-up the disease. The UAs, paraffin-embedded tumor tissue (FFPE) and longitudinal plasma samples from a cohort of 90 EC patients were analyzed using ddPCR panel and compared to the SoC. A high concordance (96.67%) was obtained between the analysis of MSI markers in UAs and the SoC. Three discordant cases were validated as unstable by ddPCR on FFPE samples. Besides, a good overall concordance (70.27%) was obtained when comparing the performance of the ddPCR assay on UAs and cfDNA in high-risk tumors. Importantly, our results also evidenced the value of MSI analysis to monitor the disease evolution. MSI evaluation in minimally invasive samples shows great accuracy and sensitivity and provides a valuable tool for the molecular characterization and follow-up of endometrial tumors, opening new opportunities for personalized management of EC.
Endometrial cancer; Liquid biopsy; Uterine aspirate
Casas-Arozamena C, Moiola CP, Vilar A, Bouso M, Cueva J, Cabrera S, et al. Noninvasive detection of microsatellite instability in patients with endometrial cancer. Int J Cancer. 2023 May 15;152(10):2206–17.
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