Frequency of microsatellite instability (MSI) in upper tract urothelial carcinoma: comparison of the Bethesda panel and the Idylla MSI assay in a consecutively collected, multi-institutional cohort

Friederike Kullmann, Pamela L Strissel, Reiner Strick, Robert Stoehr, Markus Eckstein, Simone Bertz, Bernd Wullich, Danijel Sikic, Sven Wach, Helge Taubert, Peter Olbert, Hendrik Heers, María Fernanda Lara, Maria Luisa Macias, Elisa Matas-Rico, Maria José Lozano, Daniel Prieto, Isabel Hierro, Thomas van Doeveren, Ivan BiecheJulien Masliah-Planchon, Romane Beaurepere, Joost L Boormans, Yves Allory, Bernardo Herrera-Imbroda, Arndt Hartmann, Veronika Weyerer*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Scopus)
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Abstract

AIMS: Upper tract urothelial carcinoma (UTUC) is a rare malignancy with a poor prognosis which occurs sporadically or in few cases results from a genetic disorder called Lynch syndrome. Recently, examination of microsatellite instability (MSI) has gained importance as a biomarker: MSI tumours are associated with a better response to immunomodulative therapies. Limited data are known about the prevalence of MSI in UTUC. New detection methods using the fully automated Idylla MSI Assay facilitate analysis of increased patient numbers.

METHODS: We investigated the frequency of MSI in a multi-institutional cohort of 243 consecutively collected UTUC samples using standard methodology (Bethesda panel), along with immunohistochemistry of mismatch repair (MMR) proteins. The same tumour cohort was retested using the Idylla MSI Assay by Biocartis.

RESULTS: Using standard methodology, 230/243 tumours were detected as microsatellite stable (MSS), 4/243 tumours as MSI and 9/243 samples as invalid. In comparison, the Idylla MSI Assay identified four additional tumours as MSS, equalling 234/243 tumours; 4/243 were classified as MSI and only 5/243 cases as invalid. At the immunohistochemical level, MSI results were supported in all available cases with a loss in MMR proteins. The overall concordance between the standard and the Idylla MSI Assay was 98.35%. Time to result differed between 3 hours for Idylla MSI Assay and 2 days with the standard methodology.

CONCLUSION: Our data indicate a low incidence rate of MSI tumours in patients with UTUC. Furthermore, our findings highlight that Idylla MSI Assay can be applied as an alternative method of MSI analysis for UTUC.

Original languageEnglish
Pages (from-to)126-132
Number of pages7
JournalJournal of Clinical Pathology
Volume76
Issue number2
Early online date28 Sept 2021
DOIs
Publication statusPublished - 1 Feb 2023

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