%0 Journal Article
%A Velasco, Ana
%A Tokat, Fatma
%A Bonde, Jesper
%A Trim, Nicola
%A Bauer, Elisabeth
%A Meeney, Adam
%A de Leng, Wendy
%A Chong, George
%A Dalstein, Véronique
%A Kis, Lorand L
%A Lorentzen, Jon A
%A Tomić, Snjezana
%A Thwaites, Keeley
%A Putzová, Martina
%A Birnbaum, Astrid
%A Qazi, Romena
%A Primmer, Vanessa
%A Dockhorn-Dworniczak, Barbara
%A Hernández-Losa, Javier
%A Soares, Fernando A
%A Gertler, Asaf A
%A Kalman, Michal
%A Wong, Chris
%A Carraro, Dirce M
%A Sousa, Ana C
%A Reis, Rui M
%A Fox, Stephen B
%A Fassan, Matteo
%A Brevet, Marie
%A Merkelbach-Bruse, Sabine
%A Colling, Richard
%A Soilleux, Elizabeth
%A Teo, Ryan Yee Wei
%A D'Haene, Nicky
%A Nolet, Serge
%A Ristimäki, Ari
%A Väisänen, Timo
%A Chapusot, Caroline
%A Soruri, Afsaneh
%A Unger, Tina
%A Wecgowiec, Johanna
%A Biscuola, Michele
%A Frattini, Milo
%A Long, Anna
%A Campregher, Paulo V
%A Matias-Guiu, Xavier
%T 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.
%D 2020
%U http://hdl.handle.net/10668/16579
%X 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.
%K Colorectal cancer
%K FFPE clinical tissue samples
%K Idylla™ MSI assay
%K Microsatellite instability
%K Multi-center study
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