Mismatch Repair Deficiency as a Predictive and Prognostic Biomarker in Endometrial Cancer: A Review on Immunohistochemistry Staining Patterns and Clinical Implications

Author:

Addante Francesca12,d’Amati Antonio123ORCID,Santoro Angela14ORCID,Angelico Giuseppe5ORCID,Inzani Frediano6,Arciuolo Damiano1,Travaglino Antonio7,Raffone Antonio8,D’Alessandris Nicoletta1,Scaglione Giulia1ORCID,Valente Michele1,Tinnirello Giordana5,Sfregola Stefania1,Padial Urtueta Belen1,Piermattei Alessia1,Cianfrini Federica1,Mulè Antonino1,Bragantini Emma9,Zannoni Gian Franco14ORCID

Affiliation:

1. Unità di Ginecopatologia e Patologia Mammaria, Dipartimento Scienze della Salute della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Largo A. Gemelli 8, 00168 Rome, Italy

2. Unit of Anatomical Pathology, Department of Precision and Regenerative Medicine and Ionian Area, University of Bari “Aldo Moro”, Piazza Giulio Cesare 11, 70124 Bari, Italy

3. Unit of Human Anatomy and Histology, Department of Translational Biomedicine and Neuroscience (DiBraiN), University of Bari “Aldo Moro”, Piazza Giulio Cesare 11, 70124 Bari, Italy

4. Istituto di Anatomia Patologica, Università Cattolica del Sacro Cuore, Largo A. Gemelli 8, 00168 Rome, Italy

5. Department of Medical and Surgical Sciences and Advanced Technologies “G. F. Ingrassia”, Anatomic Pathology, University of Catania, 95123 Catania, Italy

6. Anatomic Pathology Unit, Department of Molecular Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, 27100 Pavia, Italy

7. Pathology Unit, Department of Medicine and Technological Innovation, University of Insubria, 21100 Varese, Italy

8. Gynecology and Obstetrics Unit, Department of Public Health, University of Naples Federico II, 80138 Naples, Italy

9. Department of Surgical Pathology, Ospedale S. Chiara, Largo Medaglie d’Oro 9, 38122 Trento, Italy

Abstract

Among the four endometrial cancer (EC) TCGA molecular groups, the MSI/hypermutated group represents an important percentage of tumors (30%), including different histotypes, and generally confers an intermediate prognosis for affected women, also providing new immunotherapeutic strategies. Immunohistochemistry for MMR proteins (MLH1, MSH2, MSH6 and PMS2) has become the optimal diagnostic MSI surrogate worldwide. This review aims to provide state-of-the-art knowledge on MMR deficiency/MSI in EC and to clarify the pathological assessment, interpretation pitfalls and reporting of MMR status.

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

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