Biomarker Testing and Treatment Selection in Advanced Endometrial Cancer

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This segment explores the revolutionary transformation in endometrial cancer treatment through molecular characterization and biomarker-driven therapy selection. The discussion outlines the 4 distinct molecular subtypes: POLE hypermutated, microsatellite instability-high, copy number high with p53 mutations, and no specific molecular pathology. This molecular classification has fundamentally changed treatment paradigms, moving beyond traditional staging to biology-based therapeutic decisions that optimize patient outcomes through precision medicine approaches.

The panel discusses comprehensive biomarker testing strategies, emphasizing the importance of next-generation sequencing and immunohistochemistry at initial diagnosis. Key testing includes mismatch repair (MMR) protein assessment, p53 mutation status, and POLE sequencing, with appropriate reflexive testing for MLH1 hypermethylation. The conversation highlights the clinical significance of identifying Lynch syndrome patients, enabling cascade testing for family members and providing crucial cancer prevention opportunities through genetic counseling and surveillance programs.

Genetic counseling integration emerges as a vital component of comprehensive endometrial cancer care. The discussion addresses various hereditary cancer syndromes, including Lynch syndrome and Cowden syndrome associated with PTEN mutations, particularly relevant for young patients with endometrial cancer. Experts emphasize the importance of having genetic counselors participate in tumor boards and the development of specialized clinics focused on early detection and disease interception, representing a proactive approach to cancer prevention and management.