Sistema de Salut de Catalunya
Institut Català de la Salut
[Velasco A] Departments of Pathology and Molecular Genetics, Hospital U Arnau de Vilanova and Hospital U de Bellvitge, University of Lleida, IRBLLEIDA, IDIBELL, CIBERONC, 25198 Lleida, Spain. [Tokat F] Department of Pathology, Acıbadem Mehmet Ali Aydınlar University, Istanbul, Turkey. [Bonde J] Molecular Pathology Laboratory, Department of Pathology, afs. 134, Hvidovre Hospital, Hvidovre, Denmark. [Trim N] Molecular Pathology Diagnostic Service, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK. [Bauer E] Städtisches Klinikum Karlsruhe gGmbH, Institut für Pathologie, Karlsruhe, Germany. [Meeney A] Ophthalmic Pathology Laboratory Histopathology, Royal Hallamshire Hospital, Glossop Road, Sheffield, UK. [Hernández-Losa J] Servei de Patologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Spanish Biomedical Research Network Centre in Oncology (CIBERONC), Madrid, Spain
Vall d'Hebron Barcelona Hospital Campus
2022-07-01T13:43:51Z
2022-07-01T13:43:51Z
2020
2021-05
Colorectal cancer; FFPE clinical tissue samples; Microsatellite instability
Cancer colorrectal; Muestras de tejido clínico FFPE; Inestabilidad de microsatélites
Càncer colorectal; Mostres de teixit clínic FFPE; Inestabilitat del microsatèl·lits
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.
Article
Published version
English
Intestí gros - Càncer - Patogènesi; Satèl·lits (Genètica); Diagnòstic immunohistoquímic; DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms; Other subheadings::Other subheadings::Other subheadings::/pathology; ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Cytological Techniques::Histocytochemistry::Immunohistochemistry; PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Genomic Instability::Genetic Phenomena::Microsatellite Instability; ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales; Otros calificadores::Otros calificadores::Otros calificadores::/patología; TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::técnicas citológicas::histocitoquímica::inmunohistoquímica; FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::inestabilidad genómica::fenómenos genéticos::inestabilidad de microsatélites
Springer
Virchows Archiv;478
https://doi.org/10.1007/s00428-020-02962-x
Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
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