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<p>Mismatch repair (MMR) status in endometrial carcinoma (EC) is crucial for diagnosis, prognosis, treatment, and Lynch syndrome pre-screening. <i>MLH1</i> loss is the most frequent cause of MMR deficiency and usually by promoter hypermethylation. We tried to confirm the role of <i>EPM2 AIP1</i> immunohistochemistry as a surrogate of <i>MLH1</i> promoter methylation in EC. Case series from two different institutions were analyzed by comparable methods using immunohistochemistry for MMR proteins and <i>EPM2 AIP1,</i> and pyrosequencing for <i>MLH1</i> methylation. In the first series of 70 cases, concordance was 100%, after reassessing three cases with methylation scores close to cut-off, by tumor cell enrichment. In the second series of 29 <i>MLH1</i>-deficient ECs, concordance was 96.5%, while in the control group of 30 MMR-proficient EC, one <i>MLH1</i>-positive case was <i>EPM2 AIP1</i>-negative. <i>EPM2 AIP1</i> immunoreactivity was qualitatively superior in curettages and biopsies compared to hysterectomy. We conclude that <i>EPM2 AIP1</i> immunohistochemistry is a good surrogate for <i>MLH1</i> promoter methylation analysis, cost-effective with short turnaround time, but needs attention regarding preanalytical handling, normal tissue contamination, or low tumor percentage.</p>

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EPM2 AIP1 immunohistochemistry as a surrogate of promoter methylation analysis in endometrial carcinoma

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月5日

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  • Sonia Gatius,
  • Marta Vaquero,
  • Oliver Scheiber,
  • Ana Velasco,
  • Dolors Cuevas,
  • Karl Kashofer,
  • Maria Santacana,
  • Núria Eritja,
  • Sigurd Lax,
  • Xavier Matias-Guiu

摘要

Mismatch repair (MMR) status in endometrial carcinoma (EC) is crucial for diagnosis, prognosis, treatment, and Lynch syndrome pre-screening. MLH1 loss is the most frequent cause of MMR deficiency and usually by promoter hypermethylation. We tried to confirm the role of EPM2 AIP1 immunohistochemistry as a surrogate of MLH1 promoter methylation in EC. Case series from two different institutions were analyzed by comparable methods using immunohistochemistry for MMR proteins and EPM2 AIP1, and pyrosequencing for MLH1 methylation. In the first series of 70 cases, concordance was 100%, after reassessing three cases with methylation scores close to cut-off, by tumor cell enrichment. In the second series of 29 MLH1-deficient ECs, concordance was 96.5%, while in the control group of 30 MMR-proficient EC, one MLH1-positive case was EPM2 AIP1-negative. EPM2 AIP1 immunoreactivity was qualitatively superior in curettages and biopsies compared to hysterectomy. We conclude that EPM2 AIP1 immunohistochemistry is a good surrogate for MLH1 promoter methylation analysis, cost-effective with short turnaround time, but needs attention regarding preanalytical handling, normal tissue contamination, or low tumor percentage.