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Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer

Franceska Dedeurwaerdere, Kathleen Claes (UGent) , Jo Van Dorpe (UGent) , Isabelle Rottiers (UGent) , Joni Van der Meulen (UGent) , Joke Breyne, Koen Swaerts and Geert Martens (UGent)
(2021) SCIENTIFIC REPORTS. 11(1).
Author
Organization
Abstract
DNA mismatch repair deficiency (dMMR) testing is crucial for diagnosing Lynch syndrome and detection of microsatellite unstable (MSI) tumors eligible for immunotherapy. The aim of this study was to compare the relative diagnostic performance of three molecular MSI assays: polymerase chain reaction (PCR), MSI testing by Idylla and next-generation-sequencing (NGS) on 49 tumor samples (28 colorectal and 21 endometrial adenocarcinomas) versus immunohistochemistry (IHC). Discrepancies were investigated by MLH1 methylation analysis and integrated with germline results if available. Overall, the molecular assays achieved equivalent diagnostic performance for MSI detection with area under the ROC curves (AUC) of respectively 0.91 for Idylla and PCR, and 0.93 for NGS. In colorectal cancers with tumor cell percentages >= 30% all three molecular assays achieved 100% sensitivity and specificity (AUC=1) versus IHC. Also, in endometrial cancers, all three molecular assays showed equivalent diagnostic performance, albeit at a clearly lower sensitivity ranging from 58% for Idylla to 75% for NGS, corresponding to negative predictive values from 78 to 86%. PCR, Idylla and NGS show similar diagnostic performance for dMMR detection in colorectal and endometrial cancers. Molecular MSI analysis has lower sensitivity for dMMR detection in endometrial cancer indicating that combined use of both IHC and molecular methods is recommended.Clinical Trial Number/IRB: B1172020000040, Ethical Committee, AZ Delta General Hospital.
Keywords
MISMATCH-REPAIR DEFICIENCY, LYNCH-SYNDROME, HMLH1 PROMOTER, PART I, RISK, PERFORMANCE, METHYLATION, STRATEGIES, GUIDELINES, MANAGEMENT

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MLA
Dedeurwaerdere, Franceska, et al. “Comparison of Microsatellite Instability Detection by Immunohistochemistry and Molecular Techniques in Colorectal and Endometrial Cancer.” SCIENTIFIC REPORTS, vol. 11, no. 1, 2021, doi:10.1038/s41598-021-91974-x.
APA
Dedeurwaerdere, F., Claes, K., Van Dorpe, J., Rottiers, I., Van der Meulen, J., Breyne, J., … Martens, G. (2021). Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer. SCIENTIFIC REPORTS, 11(1). https://doi.org/10.1038/s41598-021-91974-x
Chicago author-date
Dedeurwaerdere, Franceska, Kathleen Claes, Jo Van Dorpe, Isabelle Rottiers, Joni Van der Meulen, Joke Breyne, Koen Swaerts, and Geert Martens. 2021. “Comparison of Microsatellite Instability Detection by Immunohistochemistry and Molecular Techniques in Colorectal and Endometrial Cancer.” SCIENTIFIC REPORTS 11 (1). https://doi.org/10.1038/s41598-021-91974-x.
Chicago author-date (all authors)
Dedeurwaerdere, Franceska, Kathleen Claes, Jo Van Dorpe, Isabelle Rottiers, Joni Van der Meulen, Joke Breyne, Koen Swaerts, and Geert Martens. 2021. “Comparison of Microsatellite Instability Detection by Immunohistochemistry and Molecular Techniques in Colorectal and Endometrial Cancer.” SCIENTIFIC REPORTS 11 (1). doi:10.1038/s41598-021-91974-x.
Vancouver
1.
Dedeurwaerdere F, Claes K, Van Dorpe J, Rottiers I, Van der Meulen J, Breyne J, et al. Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer. SCIENTIFIC REPORTS. 2021;11(1).
IEEE
[1]
F. Dedeurwaerdere et al., “Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer,” SCIENTIFIC REPORTS, vol. 11, no. 1, 2021.
@article{8720107,
  abstract     = {{DNA mismatch repair deficiency (dMMR) testing is crucial for diagnosing Lynch syndrome and detection of microsatellite unstable (MSI) tumors eligible for immunotherapy. The aim of this study was to compare the relative diagnostic performance of three molecular MSI assays: polymerase chain reaction (PCR), MSI testing by Idylla and next-generation-sequencing (NGS) on 49 tumor samples (28 colorectal and 21 endometrial adenocarcinomas) versus immunohistochemistry (IHC). Discrepancies were investigated by MLH1 methylation analysis and integrated with germline results if available. Overall, the molecular assays achieved equivalent diagnostic performance for MSI detection with area under the ROC curves (AUC) of respectively 0.91 for Idylla and PCR, and 0.93 for NGS. In colorectal cancers with tumor cell percentages >= 30% all three molecular assays achieved 100% sensitivity and specificity (AUC=1) versus IHC. Also, in endometrial cancers, all three molecular assays showed equivalent diagnostic performance, albeit at a clearly lower sensitivity ranging from 58% for Idylla to 75% for NGS, corresponding to negative predictive values from 78 to 86%. PCR, Idylla and NGS show similar diagnostic performance for dMMR detection in colorectal and endometrial cancers. Molecular MSI analysis has lower sensitivity for dMMR detection in endometrial cancer indicating that combined use of both IHC and molecular methods is recommended.Clinical Trial Number/IRB: B1172020000040, Ethical Committee, AZ Delta General Hospital.}},
  articleno    = {{12880}},
  author       = {{Dedeurwaerdere, Franceska and Claes, Kathleen and Van Dorpe, Jo and Rottiers, Isabelle and Van der Meulen, Joni and Breyne, Joke and Swaerts, Koen and Martens, Geert}},
  issn         = {{2045-2322}},
  journal      = {{SCIENTIFIC REPORTS}},
  keywords     = {{MISMATCH-REPAIR DEFICIENCY,LYNCH-SYNDROME,HMLH1 PROMOTER,PART I,RISK,PERFORMANCE,METHYLATION,STRATEGIES,GUIDELINES,MANAGEMENT}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{15}},
  title        = {{Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer}},
  url          = {{http://doi.org/10.1038/s41598-021-91974-x}},
  volume       = {{11}},
  year         = {{2021}},
}
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