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Pathogenic POLE-Mutated Endometrial Carcinomas With a Nonultramutated Genome.

Shruti Srikumar1, Nick Evans2, Melissa Yuwono Tjota3

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Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
|December 7, 2025
PubMed
Summary

Endometrial carcinomas with POLE mutations are often ultramutated. However, some POLE-mutant cases show a nonultramutated genome, potentially under-recognized and requiring further study.

Keywords:
POLEendometrial carcinomastumor mutation burdenultramutated

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Area of Science:

  • Oncology
  • Genomics
  • Molecular Pathology

Background:

  • Endometrial carcinoma has 4 molecular subtypes, with POLE-mutant cases having the best prognosis.
  • Pathogenic POLE mutations impair DNA polymerase epsilon proofreading, leading to an ultramutated genome (≥100 mutations/megabase).

Purpose of the Study:

  • To investigate the characteristics and recognition of endometrial carcinoma cases with pathogenic POLE mutations and a nonultramutated genome.

Main Methods:

  • Routine next-generation sequencing for molecular subclassification of endometrial carcinomas.
  • Analysis of tumor mutational burden, morphology, immunohistochemistry, and clinical outcomes in POLE-mutated cases.

Main Results:

  • Six POLE-mutated endometrial carcinoma cases with tumor mutational burden <100 were identified via routine sequencing, contrasting with one prior case.
  • These nonultramutated POLE-mutant cases exhibited fewer classic morphologic features and distinct immunohistochemical profiles (e.g., less MMR/p53 abnormalities, more ER/PR expression) compared to ultramutated counterparts.
  • Despite differences, a "POLE-mutational signature" was retained, and initial clinical outcomes appeared similar, warranting further investigation.

Conclusions:

  • Endometrial carcinomas with pathogenic POLE mutations and a nonultramutated genome may be under-recognized due to the lack of universal testing.
  • These cases present unique morphological and immunohistochemical features distinct from ultramutated POLE-mutant tumors.
  • Further research is needed to fully understand the clinical implications and outcomes of this subgroup.