Abstract：
OBJECTIVE: The characterization of DNA polymerase epsilon (POLE) mutations has transformed the classification of endometrial endometrioid carcinomas (EECs), highlighting the need for efficient identification methods. This study aims to examine the relationship between distinct morphologic features-namely, squamous morules and squamous differentiation (SD), as well as β-catenin expression-and the POLE mutation status in endometrial cancer (EC).
METHODS: Our study included 35 POLE-mutated (POLEmut) EC cases and 395 non-POLEmut EEC cases.
RESULTS: Notably, we observed no presence of morules in POLEmut cases, while SD was identified in 20% of instances. Conversely, morules and SD were identified in 12.7% and 26.1% of non-POLEmut EC cases, respectively, with morules consistently linked to a POLE wild-type status. The nuclear β-catenin expression is typically absent in tumors with wild-type POLE (wt-POLE) status.
CONCLUSIONS: Our findings suggest that the presence of either morules or nuclear β-catenin expression in EEC could practically rule out the presence of POLE mutations. These morphologic and immunohistochemical features can be used as preliminary screening tools for POLE mutations, offering significant savings in time and resources and potentially enhancing clinical decision-making and patient management strategies. However, further validation in larger, multi-institutional studies is required to fully understand the implications of these findings on clinical practice.
METHODS: Our study included 35 POLE-mutated (POLEmut) EC cases and 395 non-POLEmut EEC cases.
RESULTS: Notably, we observed no presence of morules in POLEmut cases, while SD was identified in 20% of instances. Conversely, morules and SD were identified in 12.7% and 26.1% of non-POLEmut EC cases, respectively, with morules consistently linked to a POLE wild-type status. The nuclear β-catenin expression is typically absent in tumors with wild-type POLE (wt-POLE) status.
CONCLUSIONS: Our findings suggest that the presence of either morules or nuclear β-catenin expression in EEC could practically rule out the presence of POLE mutations. These morphologic and immunohistochemical features can be used as preliminary screening tools for POLE mutations, offering significant savings in time and resources and potentially enhancing clinical decision-making and patient management strategies. However, further validation in larger, multi-institutional studies is required to fully understand the implications of these findings on clinical practice.
摘要：
目的：DNA聚合酶ε（POLE）突变的表征已经改变了子宫内膜子宫内膜样癌（EEC）的分类，强调需要有效的识别方法。这项研究旨在检查不同的形态学特征之间的关系-即，鳞状细胞和鳞状分化（SD），以及子宫内膜癌（EC）中β-catenin的表达和POLE突变状态。
方法：我们的研究包括35例POLE突变（POLEmut）EC病例和395例非POLEmutEEC病例。
结果：值得注意的是，我们在POLEmut病例中没有观察到桑树的存在，而SD在20%的情况下被识别。相反，在12.7％和26.1％的非POLEmutEC病例中发现了morules和SD，分别,moleules始终与POLE野生型状态相关。在具有野生型POLE(wt-POLE)状态的肿瘤中通常不存在核β-连环蛋白表达。
结论：我们的研究结果表明，在EEC中存在桑树或核β-catenin表达实际上可以排除POLE突变的存在。这些形态学和免疫组织化学特征可用作POLE突变的初步筛选工具。显著节省时间和资源，并有可能增强临床决策和患者管理策略。然而,在更大的范围内进一步验证，需要多机构研究才能充分了解这些发现对临床实践的影响.
方法：我们的研究包括35例POLE突变（POLEmut）EC病例和395例非POLEmutEEC病例。
结果：值得注意的是，我们在POLEmut病例中没有观察到桑树的存在，而SD在20%的情况下被识别。相反，在12.7％和26.1％的非POLEmutEC病例中发现了morules和SD，分别,moleules始终与POLE野生型状态相关。在具有野生型POLE(wt-POLE)状态的肿瘤中通常不存在核β-连环蛋白表达。
结论：我们的研究结果表明，在EEC中存在桑树或核β-catenin表达实际上可以排除POLE突变的存在。这些形态学和免疫组织化学特征可用作POLE突变的初步筛选工具。显著节省时间和资源，并有可能增强临床决策和患者管理策略。然而,在更大的范围内进一步验证，需要多机构研究才能充分了解这些发现对临床实践的影响.
