The Idylla MSI Test (CE-IVD) multi-center concordance study: Microsatellite instability detection in colorectal cancer samples.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e15112-e15112
Author(s):  
Patrick Pauwels ◽  
Torben Steiniche ◽  
Muriel Gazin ◽  
Jan Van de Velde ◽  
Ellen Bellon ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
High Performance ◽  
University Hospital ◽  
Clinical Routine ◽  
Routine Diagnostics ◽  
Ffpe Samples ◽  
Analysis System ◽  
Msi Analysis ◽  
Formalin Fixed

e15112 Background: To validate the Idylla MSI Test to detect microsatellite instability (MSI) in colorectal cancer (CRC) samples in comparison with Promega MSI Analysis System v1.2 (Promega MSI) and in conditions similar to normal use. Methods: The study was performed on residual formalin-fixed and paraffin-embedded (FFPE) samples obtained from routine diagnostics by two centers, University Hospital Aarhus and University Hospital Antwerp. Samples originated from CRC patients (all stages). Both centers performed the Idylla MSI Test (with 7 novel homopolymer deletion markers) at their premises on 150 and 180 samples, respectively. The comparator method, Promega MSI, was performed for all 330 samples by University Hospital Antwerp. Results: Seven (n=7) of 330 samples were excluded from the concordance analysis due to invalid or error (failed) results for Idylla MSI Test and/or Promega MSI. For the 323 valid results, overall, positive and negative percentage agreement were 99.7% (98.3%-100%;), 98.7% (92.9%-99.8%) and 100% (98.5%-100%), respectively. A higher number of invalids was observed for Promega MSI (2.1%) compared to the Idylla MSI Test (0.6%) taking into account per protocol retesting (18 retests for Promega MSI (6%) and 3 for Idylla MSI Test (1%)). Conclusions: This study validated the Idylla MSI Test with high performance and low invalid rate to discriminate MSI-H from MSS status on a clinical routine set of CRC samples.

scholarly journals Evaluation of 3 molecular-based assays for microsatellite instability detection in formalin-fixed tissues of patients with endometrial and colorectal cancers

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Pauline Gilson ◽  
Julien Levy ◽  
Marie Rouyer ◽  
Jessica Demange ◽  
Marie Husson ◽  
...  
Keyword(s):  
Microsatellite Instability ◽  
Sensitivity And Specificity ◽  
Tissue Samples ◽  
Fast Screening ◽  
Formalin Fixed Paraffin ◽  
Golden Standard ◽  
Formalin Fixed Paraffin Embedded ◽  
Analysis System ◽  
Msi Analysis ◽  
Formalin Fixed

Abstract Microsatellite instability (MSI) status is routinely assessed in patients with colorectal and endometrial cancers as it contributes to Lynch syndrome initial screening, tumour prognosis and selecting patients for immunotherapy. Currently, standard reference methods recommended for MSI/dMMR (deficient MisMatch Repair) testing consist of immunohistochemistry and pentaplex PCR-based assays, however, novel molecular-based techniques are emerging. Here, we aimed to evaluate the performance of a custom capture-based NGS method and the Bio-Rad ddPCR and Idylla approaches for the determination of MSI status for theranostic purposes in 30 formalin-fixed paraffin embedded (FFPE) tissue samples from patients with endometrial (n = 15) and colorectal (n = 15) cancers. All samples were previously characterised using IHC and Promega MSI Analysis System and these assays set as golden standard. Overall agreement, sensitivity and specificity of our custom-built NGS panel were 93.30%, 93.75% and 92.86% respectively. Overall agreement, sensitivity and specificity were 100% with the Idylla MSI system. The Bio-Rad ddPCR MSI assay showed a 100% concordance, sensitivity and specificity. The custom capture-based NGS, Bio-Rad ddPCR and Idylla approaches represent viable and complementary options to IHC and Promega MSI Analysis System for the detection of MSI. Bio-Rad ddPCR and Idylla MSI assays accounts for easy and fast screening assays while the NGS approach offers the advantages to simultaneously detect MSI and clinically relevant genomic alterations.

Immunohistochemical expression (IHC) and microsatellite instability (MSI) analysis in families with clustering of colorectal cancer

2003 ◽  
Vol 124 (4) ◽  
pp. A55
Author(s):  
Andrea E. De Jong ◽  
Marjo Van Puijenbroek ◽  
Carli M.J. Tops ◽  
Juul Wijnen ◽  
Patrick F. Franken ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Immunohistochemical Expression ◽  
Msi Analysis

scholarly journals 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

2020 ◽  
Author(s):  
Ana Velasco ◽  
Fatma Tokat ◽  
Jesper Bonde ◽  
Nicola Trim ◽  
Elisabeth Bauer ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Real World ◽  
Diagnostic Testing ◽  
Molecular Methods ◽  
Tissue Sections ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
High Concordance ◽  
Formalin Fixed

Abstract 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.

scholarly journals Robust microsatellite instability (MSI) analysis by denaturing high-performance liquid chromatography (DHPLC)

2003 ◽  
Vol 48 (10) ◽  
pp. 525-530 ◽  
Author(s):  
Il-Jin Kim ◽  
Yong Shin ◽  
Hio Chung Kang ◽  
Jae-Hyun Park ◽  
Ja-Lok Ku ◽  
...  
Keyword(s):  
High Performance Liquid Chromatography ◽  
Liquid Chromatography ◽  
Microsatellite Instability ◽  
High Performance ◽  
Msi Analysis

scholarly journals Quasimonomorphic Mononucleotide Repeats for High-Level Microsatellite Instability Analysis

2004 ◽  
Vol 20 (4-5) ◽  
pp. 251-257 ◽  
Author(s):  
Olivier Buhard ◽  
Nirosha Suraweera ◽  
Aude Lectard ◽  
Alex Duval ◽  
Richard Hamelin
Keyword(s):  
Colorectal Cancer ◽  
Microsatellite Instability ◽  
Screening Test ◽  
Consensus Meeting ◽  
Dinucleotide Repeats ◽  
Primary Tumors ◽  
Low Level ◽  
High Level ◽  
Msi Analysis ◽  
Microsatellite Instability Analysis

Microsatellite instability (MSI) analysis is becoming more and more important to detect sporadic primary tumors of the MSI phenotype as well as in helping to determine Hereditary Non-Polyposis Colorectal Cancer (HNPCC) cases. After some years of conflicting data due to the absence of consensus markers for the MSI phenotype, a meeting held in Bethesda to clarify the situation proposed a set of 5 microsatellites (2 mononucleotide repeats and 3 dinucleotide repeats) to determine MSI tumors. A second Bethesda consensus meeting was held at the end of 2002. It was discussed here that the 1998 microsatellite panel could underestimate high-level MSI tumors and overestimate low-level MSI tumors. Amongst the suggested changes was the exclusive use of mononucleotide repeats in place of dinucleotide repeats. We have already proposed a pentaplex MSI screening test comprising 5 quasimonomorphic mononucleotide repeats. This article compares the advantages of mono or dinucleotide repeats in determining microsatellite instability.

scholarly journals A new method to accurately identify single nucleotide variants using small FFPE breast samples

2020 ◽  
Author(s):  
Angelo Fortunato ◽  
Diego Mallo ◽  
Shawn M. Rupp ◽  
Lorraine King ◽  
Timothy Hardman ◽  
...  
Keyword(s):  
Cancer Research ◽  
Identification Accuracy ◽  
Breast Cancers ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Routine Diagnostics ◽  
Ffpe Samples ◽  
The Mean ◽  
Mean Similarity ◽  
Formalin Fixed

AbstractMost tissue collections of neoplasms are composed of formalin-fixed and paraffin-embedded (FFPE) excised tumor samples used for routine diagnostics. DNA sequencing is becoming increasingly important in cancer research and clinical management; however, it is difficult to accurately sequence DNA from FFPE samples. We developed and validated a new bioinformatic algorithm to robustly identify somatic single nucleotide variants (SNVs) using small amounts of DNA extracted from archival FFPE samples of breast cancers. We optimized this strategy using 28 pairs of technical replicates—the same DNA sample sequenced twice independently. After optimization, the mean similarity between replicates increased 5-fold, reaching 88% (range 0-100%), with a mean of 21.4 SNVs (range 1-68) per sample. We found that the SNV-identification accuracy declined when there was less than 40ng of DNA available and that insertion-deletion variant calls are unreliable. This new algorithm provides a crucial improvement in detecting SNVs in FFPE samples.

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