MSI testing: What is new? What should be considered? German version MSI-Testung: Was ist neu? Was ist zu beachten?
Rüschoff J, Baretton G, Bläker H, Dietmaier W, Dietel M, Hartmann A, Horn LC, Jöhrens K, Kirchner T, Knüchel R, Mayr D, Merkelbach-Bruse S, Schildhaus HU, Schirmacher P, Tiemann M, Tiemann K, Weichert W, Büttner R (2021)
Publication Type: Journal article, Review article
Publication year: 2021
Journal
DOI: 10.1007/s00292-021-00944-7
Abstract
Based on new trial data regarding immune checkpoint inhibitors (ICIs), the detection of high-grade microsatellite instability (MSI-H) or underlying deficient mismatch repair protein (dMMR) is now becoming increasingly important for predicting treatment response. For the first time, a PD‑1 ICI (pembrolizumab) has been approved by the European Medicines Agency (EMA) for first-line treatment of advanced (stage IV) dMMR/MSI‑H colorectal cancer (CRC). Further indications, such as dMMR/MSI‑H endometrial carcinoma (EC), have already succeeded (Dostarlimab, 2nd line treatment) and others are expected to follow before the end of 2021. The question of optimal testing in routine diagnostics should therefore be re-evaluated. Based on a consideration of the strengths and weaknesses of the widely available methods (immunohistochemistry and PCR), a test algorithm is proposed that allows quality assured, reliable, and cost-effective dMMR/MSI‑H testing. For CRC and EC, testing is therefore already possible at the primary diagnosis stage, in line with international recommendations (NICE, NCCN). The clinician is therefore enabled from the outset to consider not only the predictive but also the prognostic and predispositional implications of such a test when counseling patients and formulating treatment recommendations. As a basis for quality assurance, participation in interlaboratory comparisons and continuous documentation of results (e.g., QuIP Monitor) are strongly recommended.
Authors with CRIS profile
Involved external institutions
Universitätsklinikum Carl Gustav Carus Dresden
Germany (DE)
Universitätsklinikum Essen
Germany (DE)
Universität Regensburg
Germany (DE)
Universitätsklinikum Leipzig
Germany (DE)
Universitätsklinikum Heidelberg
Germany (DE)
Universitätsklinikum Köln
Germany (DE)
Targos Molecular Pathology GmbH
Germany (DE)
Technische Universität München (TUM)
Germany (DE)
Universitätsklinikum Aachen (UKA)
Germany (DE)
Ludwig-Maximilians-Universität (LMU)
Germany (DE)
Charité - Universitätsmedizin Berlin
Germany (DE)
Germany (DE)
Universitätsklinikum Essen
Germany (DE)
Universität Regensburg
Germany (DE)
Universitätsklinikum Leipzig
Germany (DE)
Universitätsklinikum Heidelberg
Germany (DE)
Universitätsklinikum Köln
Germany (DE)
Targos Molecular Pathology GmbH
Germany (DE)
Technische Universität München (TUM)
Germany (DE)
Universitätsklinikum Aachen (UKA)
Germany (DE)
Ludwig-Maximilians-Universität (LMU)
Germany (DE)
Charité - Universitätsmedizin Berlin
Germany (DE)
How to cite
APA:
Rüschoff, J., Baretton, G., Bläker, H., Dietmaier, W., Dietel, M., Hartmann, A.,... Büttner, R. (2021). MSI testing: What is new? What should be considered? German version MSI-Testung: Was ist neu? Was ist zu beachten? Pathologe. https://dx.doi.org/10.1007/s00292-021-00944-7
MLA:
Rüschoff, Josef, et al. "MSI testing: What is new? What should be considered? German version MSI-Testung: Was ist neu? Was ist zu beachten?" Pathologe (2021).
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