Molecular Testing in Endometrial Cancer: An introduction from basic to practical point

Abstract

Endometrial cancer exhibits significant molecular heterogeneity, requiring precise classification for optimal management. The current landscape of molecular testing is examined, focusing on the comprehensive The Cancer Genome Atlas (TCGA) classification. This system stratifies endometrial cancers into four subtypes: POLE DNA polymerase epsilon (POLE) ultra-mutated, mismatch repair deficient (dMMR), p53-abnormal, and no specific molecular profile (NSMP). Each subtype’s molecular characteristics, clinical features, and prognostic implications are detailed, including the roles of tumor mutational burden, copy number variation, and key genes such as tumor protein p53 (TP53). Molecular testing algorithms were explored. The clinical implications of each molecular subtype are discussed and emphasized their influence on prognosis and treatment. Simplified, some practical points were linked. Integrating molecular findings with clinicopathological data is highlighted as crucial for personalized patient management.