ATM IHC Identifies POLE-Mutant Endometrial Cancer

Loss staining patterns help flag tumors for sequencing when molecular testing is limited.

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ATM IHC identified endometrial carcinomas with 97% specificity and 80% accuracy for detecting POLE variants in tumors without mismatch repair deficiency.
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In a study of 378 patients, 24 had pathogenic POLE variants, with 96% showing nondiffuse ATM staining patterns.
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Tumors with POLE variants had a median of 158.6 mutations per Mb, indicating a higher tumor mutational burden compared to those without specific profiles.
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ATM alterations were found in 82% of POLE-mutated cancers, with truncating variants linked to loss of ATM protein expression.
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The study suggests ATM IHC as a cost-effective screening tool for identifying patients needing molecular testing, despite its limitations.

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