Multi-center real-world comparison of the fully automated Idylla™ microsatellite instability assay with routine molecular methods and immunohistochemistry on formalin-fixed paraffin-embedded tissue of colorectal cancer

Microsatellite instability (MSI) is present in 15–20% of primary colorectal cancers. MSI status is assessed to detect Lynch syndrome, guide adjuvant chemotherapy, determine prognosis, and use as a companion test for checkpoint blockade inhibitors. Traditionally, MSI status is determined by immunohis...

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Autores: Velasco, Ana, Tokat, Fatma, Bonde, Jesper, Trim, Nicola, Bauer, Elisabeth, Meeney, Adam, de Leng, Wendy, Chong, George, Dalstein, Véronique, Kis, Lorand L., Lorentzen, Jon A., Tomić, Snjezana, Thwaites, Keeley, Putzová, Martina, Birnbaum, Astrid, Qazi, Romena, Primmer, Vanessa, Dockhorn-Dworniczak, Barbara, Hernández-Losa, Javier, Soares, Fernando A., Gertler, Asaf A., Kalman, Michal, Wong, Chris, Carraro, Dirce M., Sousa, Ana C., Reis, Rui M., Fox, Stephen B., Fassan, Matteo, Brevet, Marie, Merkelbach-Bruse, Sabine, Colling, Richard, Soilleux, Elizabeth, Wei Teo, Ryan Yee, D’Haene, Nicky, Nolet, Serge, Ristimäki, Ari, Väisänen, Timo, Chapusot, Caroline, Soruri, Afsaneh, Unger, Tina, Wecgowiec, Johanna, Biscuola, Michele, Frattini, Milo, Long, Anna, Campregher, Paulo V., Matías-Guiu, Xavier
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/266659
Acceso en línea:http://hdl.handle.net/10261/266659
Access Level:acceso abierto
Palabra clave:Microsatellite instability
Idylla™ MSI assay
Colorectal cancer
Multi-center study
FFPE clinical tissue samples
Descripción
Sumario:Microsatellite instability (MSI) is present in 15–20% of primary colorectal cancers. MSI status is assessed to detect Lynch syndrome, guide adjuvant chemotherapy, determine prognosis, and use as a companion test for checkpoint blockade inhibitors. Traditionally, MSI status is determined by immunohistochemistry or molecular methods. The Idylla™ MSI Assay is a fully automated molecular method (including automated result interpretation), using seven novel MSI biomarkers (ACVR2A, BTBD7, DIDO1, MRE11, RYR3, SEC31A, SULF2) and not requiring matched normal tissue. In this real-world global study, 44 clinical centers performed Idylla™ testing on a total of 1301 archived colorectal cancer formalin-fixed, paraffin-embedded (FFPE) tissue sections and compared Idylla™ results against available results from routine diagnostic testing in those sites. MSI mutations detected with the Idylla™ MSI Assay were equally distributed over the seven biomarkers, and 84.48% of the MSI-high samples had ≥ 5 mutated biomarkers, while 98.25% of the microsatellite-stable samples had zero mutated biomarkers. The concordance level between the Idylla™ MSI Assay and immunohistochemistry was 96.39% (988/1025); 17/37 discordant samples were found to be concordant when a third method was used. Compared with routine molecular methods, the concordance level was 98.01% (789/805); third-method analysis found concordance for 8/16 discordant samples. The failure rate of the Idylla™ MSI Assay (0.23%; 3/1301) was lower than that of referenced immunohistochemistry (4.37%; 47/1075) or molecular assays (0.86%; 7/812). In conclusion, lower failure rates and high concordance levels were found between the Idylla™ MSI Assay and routine tests.

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