RT Journal Article
T1 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.
A1 Velasco, Ana
A1 Tokat, Fatma
A1 Bonde, Jesper
A1 Trim, Nicola
A1 Bauer, Elisabeth
A1 Meeney, Adam
A1 de Leng, Wendy
A1 Chong, George
A1 Dalstein, Véronique
A1 Kis, Lorand L
A1 Lorentzen, Jon A
A1 Tomić, Snjezana
A1 Thwaites, Keeley
A1 Putzová, Martina
A1 Birnbaum, Astrid
A1 Qazi, Romena
A1 Primmer, Vanessa
A1 Dockhorn-Dworniczak, Barbara
A1 Hernández-Losa, Javier
A1 Soares, Fernando A
A1 Gertler, Asaf A
A1 Kalman, Michal
A1 Wong, Chris
A1 Carraro, Dirce M
A1 Sousa, Ana C
A1 Reis, Rui M
A1 Fox, Stephen B
A1 Fassan, Matteo
A1 Brevet, Marie
A1 Merkelbach-Bruse, Sabine
A1 Colling, Richard
A1 Soilleux, Elizabeth
A1 Teo, Ryan Yee Wei
A1 D'Haene, Nicky
A1 Nolet, Serge
A1 Ristimäki, Ari
A1 Väisänen, Timo
A1 Chapusot, Caroline
A1 Soruri, Afsaneh
A1 Unger, Tina
A1 Wecgowiec, Johanna
A1 Biscuola, Michele
A1 Frattini, Milo
A1 Long, Anna
A1 Campregher, Paulo V
A1 Matias-Guiu, Xavier
K1 Colorectal cancer
K1 FFPE clinical tissue samples
K1 Idylla™ MSI assay
K1 Microsatellite instability
K1 Multi-center study
AB 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.
YR 2020
FD 2020-11-10
LK http://hdl.handle.net/10668/16579
UL http://hdl.handle.net/10668/16579
LA en
DS RISalud
RD Apr 11, 2025