International Journal of Molecular Sciences (Jan 2024)

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
https://doi.org/10.3390/ijms25021056
Journal volume & issue
Vol. 25, no. 2
p. 1056

Abstract

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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.

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