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.

Autor: Velasco A; Departments of Pathology and Molecular Genetics, Hospital U Arnau de Vilanova and Hospital U de Bellvitge, University of Lleida, IRBLLEIDA, IDIBELL, CIBERONC, Av. Alcalde Rovira Roure, 80 25198, Lleida, Spain. avelasco@gss.cat., 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., de Leng W; Department of Pathology, University Medical Center Utrecht, Utrecht, The Netherlands., Chong G; Molecular Pathology Centre, Jewish General Hospital-McGill University, Montreal, Quebec, Canada., Dalstein V; Laboratoire de Biopathologie, Unité INSERM UMR-S 1250, CHU Reims, Reims, France., Kis LL; Department of Clinical Pathology and Cytology, Karolinska University Hospital, Stockholm, Sweden., Lorentzen JA; Molecular Pathology Unit, Department of Pathology, Oslo University Hospital, Oslo, Norway., Tomić S; Department of Pathology, Forensic Medicine and Cytology, University Hospital Split, Split, Croatia., Thwaites K; Histopathology Department, Barking, Havering and Redbridge University Hospitals NHS Trust, Queen's Hospital, Romford, UK., Putzová M; Bioptická laboratoř s.r.o., Laboratory of Molecular Genetics, Plzeň, Czech Republic.; ÚBLG FN Motol, Praha, Czech Republic.; LF UK, Plzeň, Czech Republic., Birnbaum A; Institute of Pathology, Dessau, Germany., Qazi R; Department of Pathology, Shaukat Khanum Memorial Cancer Hospital & Research Centre, Johr Town, Lahore, Pakistan., Primmer V; Pathologisch-Bakteriologisches Institut Kaiser-Franz-Josef-Spital, Vienna, Austria., Dockhorn-Dworniczak B; Zentrum für Pathologie Kempten-Allgäu (MVZ), Kempten, Germany., Hernández-Losa J; Department of Pathology, Hospital Universitari Vall d'Hebron, Barcelona, Spain.; Spanish Biomedical Research Network Centre in Oncology (CIBERONC), Madrid, Spain., Soares FA; Anatomia Patológica Rede D'Or, São Paulo, SP, Brazil., Gertler AA; Department of Pathology, Hadassah Medical Center, Jerusalem, Israel., Kalman M; Department of Pathologic Anatomy, Jessenius Faculty of Medicine, Comenius University in Bratislava, Martin, Slovak Republic.; Martin's Biopsy Center Ltd., Martin, Slovak Republic., Wong C; Hong Kong Molecular Pathology Diagnostic Centre, Hong Kong Special Administrative Region of the People's Republic of China, Hong Kong, People's Republic of China., Carraro DM; Genomics and Molecular Biology Group, International Research Center/CIPE, A. C. Camargo Cancer Center, São Paulo, SP, Brazil., Sousa AC; GenoMed, Diagnósticos de Medicina Molecular, SA, Lisbon, Portugal., Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, SP, Brazil.; Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Braga, Portugal.; ICVS/3B's - PT Government Associate Laboratory, Braga/Guimarães, Portugal., Fox SB; Pathology, Peter MacCallum Cancer Centre and University of Melbourne, Vic, Australia., Fassan M; Surgical Pathology Unit, Department of Medicine (DIMED), University of Padua, Padua, Italy., Brevet M; Department of Pathology, Hospices Civils de Lyon, Université Lyon 1, Bron, France & Cypath, Villeurbanne, France., Merkelbach-Bruse S; Institute of Pathology, University Hospital Cologne, Cologne, Germany., Colling R; Nuffield Department of Surgical Sciences, University of Oxford, Oxford, UK., Soilleux E; Department of Pathology, University of Cambridge, Cambridge, UK., Teo RYW; Department of Pathology, Tan Tock Seng Hospital, Novena, Republic of Singapore., D'Haene N; Department of Pathology, Erasme Hospital, Université Libre de Bruxelles (ULB), Brussels, Belgium., Nolet S; Département de Pathologie et Biologie Cellulaire, Université de Montréal, Montreal, Québec, Canada., Ristimäki A; Department of Pathology, Research Programs Unit and HUSLAB, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Väisänen T; Oulu University Hospital and Department of Pathology, Cancer and Translational Medicine Research Unit, University of Oulu, Oulu, Finland., Chapusot C; Platform of Somatic Oncology of Burgundy, CHU, Dijon, France., Soruri A; Institut für Pathologie und Molekularpathologie, Pforzheim, Germany., Unger T; Institut für Pathologie, University of Leipzig, Leipzig, Germany., Wecgowiec J; Institut für Pathologie, Evangelisches Krankenhaus BETHESDA Zu Duisburg GmbH, Duisburg, Germany., Biscuola M; Department of Pathology, Molecular Pathology Laboratory, Hospital Universitario Virgen del Rocío-IBIS, Seville, Spain., Frattini M; Laboratory of Molecular Pathology, Institute of Pathology, Locarno, Switzerland., Long A; Cellular Pathology, Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK., Campregher PV; Hospital Israelita Albert Einstein, São Paulo, Brazil., Matias-Guiu X; Departments of Pathology and Molecular Genetics, Hospital U Arnau de Vilanova and Hospital U de Bellvitge, University of Lleida, IRBLLEIDA, IDIBELL, CIBERONC, Av. Alcalde Rovira Roure, 80 25198, Lleida, Spain.
Jazyk: angličtina
Zdroj: Virchows Archiv : an international journal of pathology [Virchows Arch] 2021 May; Vol. 478 (5), pp. 851-863. Date of Electronic Publication: 2020 Nov 10.
DOI: 10.1007/s00428-020-02962-x
Abstrakt: 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.
Databáze: MEDLINE