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

Francesca Addante; Antonio d'Amati; Angela Santoro; Giuseppe Angelico; Frediano Inzani; Damiano Arciuolo; Antonio Travaglino; Antonio Raffone; Nicoletta D'Alessandris; Giulia Scaglione; Michele Valente; Giordana Tinnirello; Stefania Sfregola; Belen Padial Urtueta; Alessia Piermattei; Federica Cianfrini; Antonino Mulè; Emma Bragantini; Gian Franco Zannoni

doi:10.3390/ijms25021056

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

Int J Mol Sci. 2024 Jan 15;25(2):1056. doi: 10.3390/ijms25021056.

Authors

Francesca Addante^{1

2}, Antonio d'Amati^{1

2

3}, Angela Santoro^{1

4}, Giuseppe Angelico⁵, Frediano Inzani⁶, Damiano Arciuolo¹, Antonio Travaglino⁷, Antonio Raffone⁸, Nicoletta D'Alessandris¹, Giulia Scaglione¹, Michele Valente¹, Giordana Tinnirello⁵, Stefania Sfregola¹, Belen Padial Urtueta¹, Alessia Piermattei¹, Federica Cianfrini¹, Antonino Mulè¹, Emma Bragantini⁹, Gian Franco Zannoni^{1

4}

Affiliations

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.

Keywords: MMR deficiency; MSI; endometrial cancer; histomolecular prognostic risk assessment; immunotherapy.

Publication types

Review

MeSH terms

Biomarkers
Brain Neoplasms*
Colorectal Neoplasms*
Endometrial Neoplasms* / diagnosis
Endometrial Neoplasms* / genetics
Female
Humans
Immunohistochemistry
Neoplastic Syndromes, Hereditary*
Prognosis
Staining and Labeling

Substances

Biomarkers

Supplementary concepts

Turcot syndrome

Grants and funding

This research received no external funding.