Department of Pathology, University Medical Centre Maribor, Ljubljanska ulica 5, 2000 Maribor, Slovenia.
Divison for Gynaecology and Perinatology, University Medical Centre Maribor, Ljubljanska ulica 5, 2000 Maribor, Slovenia.
Dis Markers. 2022 Apr 28;2022:1442441. doi: 10.1155/2022/1442441. eCollection 2022.
Endometrial cancer (EC) is the most common gynaecologic malignancy in the developed countries. Recent evidence suggests that histopathological subtyping together with molecular subgrouping can lead to more accurate assessment of the risk profile for the patient. Clinical studies suggest the currently used molecular classification improves the risk assessment of women with endometrial cancer but does not explain the differences in recurrence profiles clearly. This could be improved by novel markers. One of such are mutations in the -catenin () gene, a frequently mutated gene in endometrial cancer. This shows mutations mostly at phosphorylation sites of the -catenin and almost exclusively in the endometrial subgroup of no specific molecular profile. mutations lead to alterations in the Wnt/-catenin signalling pathway, involved in the carcinogenesis and progression of EC by inducing transcription of target genes, whose function is to regulate the cell cycle. Although tumours with mutations in tend to have low-risk characteristics, they are related to worse outcomes with significantly increased rate of disease recurrence and lower overall survival.
子宫内膜癌（EC）是发达国家最常见的妇科恶性肿瘤。最近的证据表明，组织病理学亚型与分子亚群相结合可以更准确地评估患者的风险状况。临床研究表明，目前使用的分子分类可以提高子宫内膜癌患者的风险评估，但不能清楚地解释复发模式的差异。这可以通过新的标志物来改善。其中之一是 -连环蛋白（）基因的突变，该基因在子宫内膜癌中经常发生突变。这表明突变主要发生在 -连环蛋白的磷酸化位点，几乎仅在无特定分子特征的子宫内膜亚组中发生。 突变导致 Wnt/-连环蛋白信号通路的改变，通过诱导靶基因的转录，参与 EC 的发生和进展，靶基因的功能是调节细胞周期。尽管 -连环蛋白基因突变的肿瘤往往具有低风险特征，但它们与更差的结果相关，疾病复发率显著增加，总生存率降低。
