2026-05-20T04:01:56Zhttps://repisalud.isciii.es/rest/oai/requestoai: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
Repisalud
author
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
funder
Agencia Estatal de Investigación (España)
funder
Instituto de Salud Carlos III
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
2025-02-24T13:53:34Z
2025-02-24T13:53:34Z
2024-10
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
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.
eng
Endometrial carcinoma
Idylla
Microsatellite instability
Mismatch repair deficiency
Performance of the Idylla microsatellite instability test in endometrial cancer
research article
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PerformanceIdyllaMicrosatelliteInstability_2024.pdf
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Supplementary_table1_PerformanceIdyllaMicrosatelliteInstability_2024.pdf
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Supplementary_table2_PerformanceIdyllaMicrosatelliteInstability_2024.pdf