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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

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  • Ana Velasco
  • Fatma Tokat
  • Jesper Bonde
  • Nicola Trim
  • Elisabeth Bauer
  • Adam Meeney
  • Wendy de Leng
  • George Chong
  • Véronique Dalstein
  • Lorand L Kis
  • Jon A Lorentzen
  • Snjezana Tomić
  • Keeley Thwaites
  • Martina Putzová
  • Astrid Birnbaum
  • Romena Qazi
  • Vanessa Primmer
  • Barbara Dockhorn-Dworniczak
  • Javier Hernández-Losa
  • Fernando A Soares
  • Asaf A Gertler
  • Michal Kalman
  • Chris Wong
  • Dirce M Carraro
  • Ana C Sousa
  • Rui M Reis
  • Stephen B Fox
  • Matteo Fassan
  • Marie Brevet
  • Sabine Merkelbach-Bruse
  • Richard Colling
  • Elizabeth Soilleux
  • Ryan Yee Wei Teo
  • Nicky D'Haene
  • Serge Nolet
  • Ari Ristimäki
  • Timo Väisänen
  • Caroline Chapusot
  • Afsaneh Soruri
  • Tina Unger
  • Johanna Wecgowiec
  • Michele Biscuola
  • Milo Frattini
  • Anna Long
  • Paulo V Campregher
  • Xavier Matias-Guiu
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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.

Original languageEnglish
JournalVirchows Archiv : an international journal of pathology
Issue number5
Pages (from-to)851-863
Number of pages13
Publication statusPublished - May 2021

Bibliographical note

Publisher Copyright:
© 2020, The Author(s).

Copyright 2021 Elsevier B.V., All rights reserved.

    Research areas

  • Microsatellite instability, Idylla&#8482, MSI assay, Colorectal cancer, Multi-center study, FFPE clinical tissue samples, Idylla™ MSI assay

ID: 61229470