ArticlePloS one2019
Phenotype of POLE-mutated endometrial cancer.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 4 of them syntheses that pooled it.
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Who cites it
46 citing papers in PubMed, 4 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- Molecular profile in endometrial carcinoma: can we predict the lymph node status? A systematic review and meta-analysis.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024Pooled it
- Prognosis of polymerase epsilon (POLE) mutation in high-grade endometrioid endometrial cancer: Systematic review and meta-analysis.Gynecologic oncology · 2024Pooled it
- Biomolecular and Genetic Prognostic Factors That Can Facilitate Fertility-Sparing Treatment (FST) Decision Making in Early Stage Endometrial Cancer (ES-EC): A Systematic Review.International journal of molecular sciences · 2022Pooled it
- Pooled it
- Current status and targeted therapies in endometrial cancer: Molecular classification-driven treatment strategies (Review).Oncology letters · 2026Review
- Molecular subtyping and POLE mutation spectrum in endometrial carcinoma.The Indian journal of medical research · 2026Article
- Promising survival prospects and immunotherapy potential in polymerase epsilon-mutated endometrial cancer: a comprehensive systematic review and meta-analysis unveiling future therapeutic opportunities.Obstetrics & gynecology science · 2026Article
- The dysregulation of the immune microenvironment during endometrial intraepithelial neoplasia serves as a marker of endometrial carcinogenesis.Frontiers in immunology · 2026Review
- The relationship between histopathological data and molecular alterations with oncological outcomes in endometrioid-type endometrial cancers and a novel POLE mutation.Journal of gynecologic oncology · 2026Article
- Endometrial cancer: from clinical reality to molecular treatment.Discover oncology · 2025Review
- Review
- Patient-derived colorectal microtumors predict response to anti-PD-1 therapy.Frontiers in immunology · 2025Article
- The new 2023 FIGO staging system for endometrial cancer: what is different from the previous 2009 FIGO staging system?Journal of gynecologic oncology · 2024Article
- Morules and β-catenin predict POLE mutation status in endometrial cancer: A pathway to more cost-effective diagnostic procedures.American journal of clinical pathology · 2024Article
- Potential of molecular classification to guide fertility-sparing management among young patients with endometrial cancer.Gynecologic oncology · 2024Review
- Review
- Biomarker characterization in endometrial cancer in Europe: first survey data analysis from 69 pathological academic and hospital labs.Pathologica · 2024Article
- The game-changing impact ofFrontiers in oncology · 2024Review
- The Clinical and Pathological Characteristics of POLE-Mutated Endometrial Cancer: A Comprehensive Review.Cancer management and research · 2024Review
- Molecular classification of endometrial cancer: preliminary experience from a single Portuguese academic center.Pathology oncology research : POR · 2024Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeIndividualized therapy in endometrial cancer, the most common gynaecologic cancer in the developed world, focuses on identifying specific molecular subtypes. Mutations in the exonuclease domain of the DNA polymerase epsilon (POLE) gene define one such subtype, which causes an ultra-mutated tumour phenotype. These tumours may have an improved progression-free survival and may be receptive to specific therapies. However, the clinical phenotype of these tumours is unknown. The objective of this study was to evaluate the clinical and genetic features of POLE-mutated tumours from a large cohort of women whose cases are characterized by: (1) the availability of detailed clinical and lifestyle data; (2) mutation analysis; and (3) long-term follow-up.
methodsA total of 604 patients with endometrial cancer were included in the study. Data from a detailed questionnaire, including lifestyle and family history information, provided extensive pertinent information on the patients. Sequencing of exons 9-14 of the POLE gene was performed. Follow-up data were gathered and analysed.
resultsHotspot pathogenic POLE mutations were identified in N = 38/599 patients (6.3%). Patients with a POLE-mutated tumour were significantly younger, were more often nulliparous, and had a history of smoking. POLE-mutated tumours were more frequently aneuploid. Prognosis for patients with hotspot POLE-mutated tumours was significantly better in comparison with patients with non-mutated tumours; however careful selection of pathogenic mutations is essential to the definition of this prognostically favourable group.
conclusionsThis study demonstrates that POLE-mutated endometrial cancer is significantly associated with previously unknown clinicopathologic characteristics. Outcome in POLE-mutated tumours was excellent in cases with hotspot mutations. Our results suggest that prediction of excellent outcome in cases of POLE-mutated EMCA should be restricted to cases of EMCA with hotspot mutations until further data are available on the rising number of mutations with unknown significance.
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