Wang Kai-Hung, Ding Dah-Ching
Department of Medical Research, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan.
Department of Obstetrics and Gynecology, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation and Tzu Chi University, Hualien, Taiwan.
Tzu Chi Med J. 2024 Sep 17;37(2):135-144. doi: 10.4103/tcmj.tcmj_120_24. eCollection 2025 Apr-Jun.
The traditional classification and risk stratification systems of endometrial cancer (EC), which relied on histomorphological features, were limited and poor reproducible. The classification of new molecular subtypes of EC has been developing, including The Cancer Genome Atlas (TCGA)-four molecular subtypes: Polymerase epsilon (POLE) mutation (POLEmut), microsatellite instability hypermutated, copy number-low, and copy number-high and ProMisE-four molecular subtypes: POLEmut, mismatch repair deficiency, no specific molecular profile, and p53 abnormal. POLEmut usually correlates with a favorable outcome. Hence, we reviewed the research since the TCGA molecular subtypes developed in 2013 and summarized the characteristics and prognosis of POLEmut EC patients. In summary, we found POLEmut occurs in 7.3%-9.6% of EC in the previous studies. POLEmut EC consistently exhibits favorable patient outcomes, regardless of adjuvant therapy. The research of POLEmut in EC is absent in Taiwan, and the underlying mechanisms and cost-effectiveness need further investigation.
子宫内膜癌（EC）的传统分类和风险分层系统依赖于组织形态学特征，存在局限性且可重复性差。EC新分子亚型的分类一直在发展，包括癌症基因组图谱（TCGA）的四种分子亚型：聚合酶ε（POLE）突变型（POLEmut）、微卫星不稳定性高突变型、拷贝数低型和拷贝数高型，以及ProMisE的四种分子亚型：POLEmut、错配修复缺陷型、无特定分子特征型和p53异常型。POLEmut通常与良好的预后相关。因此，我们回顾了自2013年TCGA分子亚型出现以来的研究，并总结了POLEmut EC患者的特征和预后。总之，我们发现在先前的研究中，POLEmut在EC中的发生率为7.3%-9.6%。无论辅助治疗如何，POLEmut EC患者的预后始终良好。台湾地区缺乏对EC中POLEmut的研究，其潜在机制和成本效益需要进一步研究。
