2026-04-29T23:03:55Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/263702025-12-18T12:56:03Zcom_20.500.12105_15322com_20.500.12105_2051com_20.500.12105_2052col_20.500.12105_16963col_20.500.12105_19616col_20.500.12105_16988

00925njm 22002777a 4500 dc Mendiola, Marta author Heredia-Soto, Victoria author Ruz-Caracuel, Ignacio author Baillo, Amparo author Ramon-Patino, Jorge Luis author Berjon, Alberto author Escudero Ruiz, Francisco Javier author Peláez-García, Alberto author Hernandez, Alicia author Feliu, Jaime author Hardisson, David author Redondo, Andres author 2024-10 Context: DNA mismatch repair (MMR) deficiency (dMMR) testing is now recommended in endometrial cancer. Defect identification in the molecules participating in this pathway, or the presence of microsatellite instability, are commonly employed for this purpose. Novel methods are continuously evolving to report dMMR/microsatellite instability and to easily perform routine diagnoses. Objective: The main aim of this study was to compare the concordance of the Idylla microsatellite instability test for the identification of dMMR endometrial cancer samples defined by immunohistochemistry and MMR genomic status. Design: We applied the Idylla MSI test to 126 early-stage endometrial cancer cases with MMR testing by immunohistochemistry and genomic characterization (methylation in MLH1 and sequence alterations in MLH1, PMS2, MSH2 and MSH6). Individual markers and overall specific performance indicators were explored. Results: The Idylla platform achieved a higher global concordance rate with MMR genomic status than with immunohistochemistry (75 % and 66 %, respectively). Sensitivity and specificity are also higher (75 % vs 66 % and 96 % vs 90 %, respectively). Clustering analysis split the patients into 2 well-differentiated clusters, the pMMR and the dMMR group, represented by MLH1/PMS2 loss and the MLH1 methylated promoter. Overall, immunohistochemistry and MMR genomic status identified more dMMR cases than did the Idylla test, although correlations were improved with a modified Idylla test cut-off. Conclusions: Performance of the Idylla test was better correlated with MMR genomic status than MMR immunohistochemistry status, which improved with a modified test cut-off. Further studies are needed to confirm the cut-off accuracy. Mendiola M, Heredia-Soto V, Ruz-Caracuel I, Baillo A, Ramon-Patino JL, Berjon A, Escudero FJ, Pelaez-Garcia A, Hernandez A, Feliu J, Hardisson D, Redondo A. Performance of the Idylla microsatellite instability test in endometrial cancer. Mol Cell Probes. 2024 Oct;77:101976. 10.1016/j.mcp.2024.101976 1096-1194 0890-8508 Molecular and cellular probes 39069012 https://hdl.handle.net/20.500.12105/26370 Endometrial carcinoma Idylla Microsatellite instability Mismatch repair deficiency Performance of the Idylla microsatellite instability test in endometrial cancer