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Mismatch Repair01:36

Mismatch Repair

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Multiplexed Fluorescent Immunohistochemical Staining of Four Endometrial Immune Cell Types in Recurrent Miscarriage
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Comparison of Methods for Testing Mismatch Repair Status in Endometrial Cancer.

Marta Mendiola1,2, Victoria Heredia-Soto2,3, Ignacio Ruz-Caracuel2,4

  • 1Molecular Pathology and Therapeutic Targets Group, Hospital La Paz Institute for Health Research (IdiPAZ), 28046 Madrid, Spain.

International Journal of Molecular Sciences
|October 14, 2023
PubMed
Summary
This summary is machine-generated.

Mismatch repair (MMR) deficiency testing in endometrial cancer (EC) shows discrepancies between methods. Immunohistochemistry (IHC) correlated better with genomic status than PCR-based microsatellite instability (MSI) testing.

Keywords:
endometrial carcinomamethylationmicrosatellite instabilitymismatch repair deficiency

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Area of Science:

  • Gynecologic Oncology
  • Molecular Pathology
  • Cancer Diagnostics

Background:

  • Mismatch repair (MMR) deficiency (dMMR) or microsatellite instability (MSI) characterizes 20-30% of endometrial carcinomas (EC).
  • MMR deficiency testing is integral to routine EC diagnosis, guiding treatment decisions.
  • Standardized and accurate MMR status assessment is crucial for effective patient management.

Purpose of the Study:

  • To establish and compare the accuracy of different methods for assessing MMR status in early-stage EC.
  • To evaluate the concordance between immunohistochemistry (IHC), PCR-based MSI analysis, and genetic/epigenetic defect detection.
  • To identify the most reliable technique for determining MMR status in EC.

Main Methods:

  • Analysis of 126 early-stage EC samples.
  • Utilized immunohistochemistry (IHC), PCR-based microsatellite instability (MSI) testing, and targeted next-generation sequencing (NGS) with multiplex ligation-dependent probe amplification (MLPA) for MMR gene defect detection.
  • Evaluated MSH3 expression alongside key MMR genes (MLH1, PMS2, MSH2, MSH6).

Main Results:

  • 53.2% of EC samples were dMMR and 46.8% proficient MMR (pMMR) by IHC; 69.3% were microsatellite stable (MSS), 8.8% MSI-low (MSI-L), and 21.9% MSI-high (MSI-H) by PCR.
  • 44.3% of samples exhibited genetic or epigenetic alterations in MMR genes, with MLH1 promoter methylation being most frequent.
  • Observed acceptable concordance but notable discrepancies between methods, particularly in the dMMR group; IHC showed better correlation with genomic MMR status than PCR-based MSI.

Conclusions:

  • Discrepancies exist between IHC, PCR-based MSI, and genetic/epigenetic testing for MMR status in EC.
  • IHC appears more concordant with the underlying genomic MMR status compared to PCR-based MSI analysis.
  • Further research is necessary to determine the optimal MMR assessment technique for endometrial carcinoma.