Epigenetic Signature Enables Accurate Classification of Pleural and Peritoneal Effusions

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Abstract

This study demonstrates that a dual-marker DNA methylation test for SHOX2 and RASSF1A significantly improves the detection of cancer in pleural and peritoneal effusions compared to conventional cytology alone. In a prospective analysis of 696 patient samples, cytology by itself had a low sensitivity of only 34.7%. In contrast, the methylation assay achieved high accuracy with a sensitivity of approximately 80% and a specificity of over 89%. When the methylation results were combined with cytology, the diagnostic sensitivity dramatically increased to 91.7% without compromising specificity. This robust performance was consistent across various cancers, including lung, gastrointestinal, and gynecological malignancies. The findings strongly support integrating this minimally invasive molecular test into routine clinical workflows to enable faster, more accurate cancer diagnosis from fluid samples, potentially reducing the need for more invasive procedures.

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