Detection of microsatellite instability with Idylla MSI assay in colorectal and endometrial cancer

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Ukkola , I , Nummela , P , Pasanen , A , Kero , M , Lepistö , A , Kytölä , S , Bützow , R & Ristimäki , A 2021 , ' Detection of microsatellite instability with Idylla MSI assay in colorectal and endometrial cancer ' , Virchows Archiv , vol. 479 , no. 3 , pp. 471-479 . https://doi.org/10.1007/s00428-021-03082-w

Title: Detection of microsatellite instability with Idylla MSI assay in colorectal and endometrial cancer
Author: Ukkola, Iiris; Nummela, Pirjo; Pasanen, Annukka; Kero, Mia; Lepistö, Anna; Kytölä, Soili; Bützow, Ralf; Ristimäki, Ari
Contributor organization: HUSLAB
Department of Pathology
Department of Diagnostics and Therapeutics
ATG - Applied Tumor Genomics
Research Programs Unit
University of Helsinki
Medicum
HUS Abdominal Center
II kirurgian klinikka
Department of Surgery
Clinicum
Department of Medical and Clinical Genetics
Helsinki University Hospital Area
Date: 2021-09
Language: eng
Number of pages: 9
Belongs to series: Virchows Archiv
ISSN: 0945-6317
DOI: https://doi.org/10.1007/s00428-021-03082-w
URI: http://hdl.handle.net/10138/340337
Abstract: Universal testing of microsatellite instability (MSI) is recommended for colorectal cancer (CRC) and endometrial cancer (EC) to screen for Lynch syndrome and to aid in assessing prognosis and optimal treatment. We compared the performance of Idylla MSI test to immunohistochemistry (IHC) of mismatch repair (MMR) proteins in consecutive series of 100 CRC and 108 EC samples, as well as in retrospective series of 28 CRC and 33 EC specimens with known deficient MMR protein expression. The concordance between the Idylla test and IHC was 100% in all CRC samples (n=128) but lower in EC samples (87.2%; n=141). In the EC samples, sensitivity of Idylla test was 72.7% and specificity 100%. EC MSI/dMMR agreement was 85.4% for MLH1, 87.5% for MSH2, and only 35.3% for MSH6. When we analyzed 14 EC samples that were discrepant, i.e., dMMR using IHC and microsatellite stable using Idylla, with microsatellite markers BAT25 and BAT26, we found four cases to be replication error (RER) positive. All RER positive cases were deficient for MSH6 protein expression. We also re-analyzed EC samples with variable tumor cellularity to determine the limit of detection of the Idylla test and found that a 30% or higher tumor cellularity is required. We conclude that Idylla MSI test offers a sensitive and specific method for CRC diagnostics but is less sensitive in EC samples especially in the case of MSH6 deficiency.
Subject: Colorectal cancer
Endometrial cancer
Idylla
Immunohistochemistry
Microsatellite instability
Mismatch repair
TESTING STRATEGIES
PATTERNS
3111 Biomedicine
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion


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