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Endocrine Abstracts

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ea0099rc3.6 | Rapid Communications 3: Adrenal and Cardiovascular Endocrinology | Part I | ECE2024

Mismatch repair deficiency and microsatellite instability in adrenocortical carcinoma: Diagnosis, prevalence, and clinical impact

Altieri Barbara , Herterich Sabine , Kircher Stefan , Jahn Arne , Teleanu Maria-Veronica , Lippert Juliane , Landwehr Laura-Sophie , Kimpel Otilia , Reuter Miriam , Remde Hanna , Stenzinger Albrecht , Glimm Hanno , Bargou Ralf , Froehling Stefan , Ronchi Cristina L , Appenzeller Silke , Fassnacht Martin , Matthias Kroiss

Background: DNA mismatch repair (MMR) maintains genomic integrity and stability. Inactivation of the MMR genes MLH1, PMS2, MSH2, and MSH6 by somatic or germline variants or gene methylation causes MMR deficiency (dMMR) leading to microsatellite instability (MSI) and high tumour mutational burden. In many tumour entities, patients with dMMR/MSI respond well to immune checkpoint inhibitor (ICI) therapy. The clinical relevance of dMMR and MSI i...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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