Endometrial cancer (EC) incidence and mortality rates have been increasing, particularly among young females. Although more than 90% of ECs are sporadic, 5–10% are hereditary, a majority of which occurs within Hereditary Non-Polyposis Colorectal Cancer syndrome (HNPCC) or Lynch syndrome. The traditional histopathological classification differentiates EC between two main groups: type I (or endometrioid) and type II (including all other histopathological subtypes). However, this classification lacks reproducibility and does not account for the emerging molecular heterogeneity. In 2013, The Cancer Genome Atlas (TCGA) project proposed EC molecular classification defining four groups with different prognostic and predictive values and the current international guidelines are progressively establishing EC risk stratification and treatment based on both histopathological and molecular criteria. Our manuscript aims to summarize the current state of EC molecular characterizations, including germline alterations at the basis of hereditary EC predisposition, to discuss their clinical utility as prognostic and predictive markers.

中文翻译：

---

分子表征作为子宫内膜癌预后特征和治疗策略的新驱动力

子宫内膜癌（EC）的发病率和死亡率一直在上升，特别是在年轻女性中。虽然超过 90% 的 EC 是散发性的，但 5-10% 是遗传性的，其中大多数发生在遗传性非息肉病性结直肠癌综合征 (HNPCC) 或 Lynch 综合征中。传统的组织病理学分类将 EC 分为两大类：I 型（或子宫内膜样）和 II 型（包括所有其他组织病理学亚型）。然而，这种分类缺乏可重复性，并且没有考虑到新出现的分子异质性。 2013年，癌症基因组图谱（TCGA）项目提出了EC分子分类，定义了具有不同预后和预测值的四组，目前的国际指南正在逐步建立基于组织病理学和分子标准的EC风险分层和治疗。我们的手稿旨在总结 EC 分子特征的现状，包括基于遗传性 EC 易感性的种系改变，以讨论其作为预后和预测标记物的临床实用性。