Endometrial carcinoma (EC) continues to represent a major cause of gynecologic cancer–related mortality among women worldwide. Its multifactorial etiopathogenesis and underlying molecular heterogeneity have been the focus of extensive investigation. While traditional histological classification provides essential diagnostic insight, it is limited in predicting prognosis and therapeutic response due to significant interobserver variability. Recent advances in molecular biology and cancer genomics have profoundly enhanced understanding of EC pathogenesis. The Cancer Genome Atlas (TCGA) project delineated four distinct molecular subtypes of EC, POLE ultra-mutated, microsatellite instability hypermutated (MSI-H), copy number low (CNL) and copy number high (CNH), each defined by unique genomic alterations, histopathologic features, and clinical behaviors. These molecular groups demonstrate significant prognostic and therapeutic implications, correlating with differential outcomes and treatment responses. This review summarizes current evidence on the genomic landscape of endometrial carcinoma and underscores the pivotal role of molecular classification in improving diagnostic accuracy, prognostic stratification, and personalized therapy. Ongoing research into molecular biomarkers holds promise for refining patient management and optimizing clinical outcomes.
子宫内膜癌(EC)仍是全球女性妇科癌症相关死亡的主要原因。其多因素发病机制及潜在的分子异质性已成为广泛研究的焦点。传统的组织学分类虽提供了必要的诊断依据,但由于观察者间存在显著差异,其在预测预后和治疗反应方面存在局限。分子生物学和癌症基因组学的最新进展极大地深化了对EC发病机制的理解。癌症基因组图谱(TCGA)项目将EC划分为四种不同的分子亚型:POLE超突变型、微卫星不稳定性高突变型(MSI-H)、拷贝数低型(CNL)和拷贝数高型(CNH),每种亚型均由独特的基因组改变、组织病理学特征和临床行为所定义。这些分子分型展现出显著的预后和治疗意义,与不同的临床结局和治疗反应密切相关。本综述总结了当前关于子宫内膜癌基因组特征的研究证据,并强调了分子分型在提高诊断准确性、预后分层和个体化治疗中的关键作用。对分子生物标志物的持续研究有望进一步完善患者管理并优化临床结局。
Molecular Classification of Endometrial Carcinomas: Review and Recent Updates