Rueschoff, Josef and Schildhaus, Hans-Ulrich and Rueschoff, Jan Hendrik and Joehrens, Korinna and Edmonston, Tina Bocker and Dietmaier, Wolfgang and Blaker, Hendrik and Baretton, Gustavo and Horst, David and Dietel, Manfred and Hartmann, Arndt and Klauschen, Frederick and Merkelbach-Bruse, Sabine and Stenzinger, Albrecht and Schoeniger, Sandra and Tiemann, Markus and Weichert, Wilko and Buettner, Reinhard (2023) Testing for deficient mismatch repair and microsatellite instability. PATHOLOGIE, 44 (2). S61-S70. ISSN 2731-7188, 2731-7196
Full text not available from this repository. (Request a copy)Abstract
Testing to detect mismatch repair deficiency (dMMR) and high-grade microsatellite instability (MSI-H) has become an integral part of the routine diagnostic workup for colorectal cancer (CRC). While MSI was initially considered to be a possible indicator of a hereditary disposition to cancer (Lynch syndrome, LS), today the prediction of the therapy response to immune checkpoint inhibitors ( ICI) is in the foreground. Corresponding recommendations and testing algorithms are available for use in primary diagnosis (reviewed in: Ruschoff et al. 2021). Given the increasing importance for routine use and the expanding indication spectrum of ICI therapies for non- CRCs, such as endometrial, small intestinal, gastric, and biliary tract cancers, an updated review of dMMR/MSI testing is presented. The focus is on the challenges in the assessment of immunohistochemical stains and the value of PCR-based procedures, considering the expanded ICI indication spectrum. A practice-oriented flowchart for everyday diagnostic decision-making is provided that considers new data on the frequency and type of discordances between MMR-IHC and MSI-PCR findings, and the possible role of Next Generation Sequencing in clarifying them. Reference is made to the significance of systematic quality assurance measures (e.g., QuIP MSI portal and multicenter proficiency testing), including regular continued training and education.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | PROTEIN EXPRESSION; MUTATIONS; Hereditary nonpolyposiscolorectal neoplasms; High-throughput nucleotide sequencing; MMR immunohistochemistry; Immune checkpoint inhibitors; Lynch syndrome |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Pathologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 22 Apr 2024 13:22 |
| Last Modified: | 22 Apr 2024 13:22 |
| URI: | https://pred.uni-regensburg.de/id/eprint/62935 |
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