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Morules and β-catenin predict POLE mutation status in endometrial cancer: A pathway to more cost-effective diagnostic procedures.
- Source :
-
American journal of clinical pathology [Am J Clin Pathol] 2024 Aug 01; Vol. 162 (2), pp. 141-150. - Publication Year :
- 2024
-
Abstract
- Objectives: 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).<br />Methods: Our study included 35 POLE-mutated (POLEmut) EC cases and 395 non-POLEmut EEC cases.<br />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.<br />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.<br /> (© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)
- Subjects :
- Humans
Female
Middle Aged
Biomarkers, Tumor genetics
Aged
Cost-Benefit Analysis
Adult
Endometrial Neoplasms genetics
Endometrial Neoplasms pathology
Endometrial Neoplasms diagnosis
beta Catenin genetics
beta Catenin metabolism
DNA Polymerase II genetics
Mutation
Poly-ADP-Ribose Binding Proteins genetics
Carcinoma, Endometrioid genetics
Carcinoma, Endometrioid pathology
Carcinoma, Endometrioid diagnosis
Subjects
Details
- Language :
- English
- ISSN :
- 1943-7722
- Volume :
- 162
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- American journal of clinical pathology
- Publication Type :
- Academic Journal
- Accession number :
- 38513273
- Full Text :
- https://doi.org/10.1093/ajcp/aqae023