Evidence map›Paper›PMID 39865420›Full record

ArticleCancer2025

POLE mutations in endometrial carcinoma: Clinical and genomic landscape from a large prospective single-center cohort.

Camilla Nero, Rita Trozzi, Federica Persiani, Simone Rossi, Luca Mastrantoni, Simona Duranti, Floriana Camarda, Ilenia Marino, Luciano Giacò, Tina Pasciuto and 10 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cancer, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

Camilla NeroUnit of Oncological Gynecology, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Rita TrozziUnit of Oncological Gynecology, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0001-6556-5203
Federica PersianiUniversità Cattolica del Sacro Cuore, Rome, Italy.
Simone RossiBioinformatics Research Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Luca MastrantoniMedical Oncology, Università Cattolica del Sacro Cuore, Rome, Italy.
Simona DurantiScientific Directorate, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-1924-238X
Floriana CamardaUnit of Oncological Gynecology, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Ilenia MarinoScientific Directorate, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Luciano GiacòBioinformatics Research Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0003-0657-4323
Tina PasciutoEpidemiology and Biostatistics Facility, G-SteP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Maria De BonisDepartmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Martina RinelliDepartmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Emanuele PerroneUnit of Oncological Gynecology, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Flavia GiacominiScientific Directorate, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Domenica LorussoGynecologic Oncology Unit, Humanitas San Pio X, Humanitas University, Milan, Italy.
Alessia PiermatteiGynecopathology and Breast Pathology Unit, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Gianfranco ZannoniGynecopathology and Breast Pathology Unit, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Francesco FanfaniUnit of Oncological Gynecology, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Giovanni ScambiaUnit of Oncological Gynecology, Department of Women, Children and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.ORCID https://orcid.org/0000-0002-9503-9041
Angelo MinucciDepartmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, G-STeP, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Funding

Italian Ministry of Health
6 · The paper itself

Abstract

backgroundTo date, 11 DNA polymerase epsilon (POLE) pathogenic variants have been declared "hotspot" mutations. Patients with endometrial cancer (EC) characterized by POLE hotspot mutations (POLEmut) have exceptional survival outcomes. Whereas international guidelines encourage deescalation of adjuvant treatment in early-stage POLEmut EC, data regarding safety in POLEmut patients with unfavorable characteristics are still under investigation. On the other hand, the spread of comprehensive genome profiling programs has underscored the need to interpret POLE variants not considered to be hotspots.

methodsThis study provides a comprehensive analysis of 596 sequenced patients with EC. The genomic landscape of POLEmut EC was compared with cases harboring nonhotspot POLE mutations within the exonuclease domain. Additionally, the genomic characteristics of multiple classifiers, as well as those exhibiting unfavorable histopathological and clinical features, were examined.

resultsNo significant genomic differences were observed among patients with POLEmut EC when comparing multiple classifiers to not-multiple classifiers or those with unfavorable clinical features. However, the tumor mutational burden differed in both comparisons, whereas the percentage of C>G mutations only differed in the comparison based on clinical features. Specific POLE mutations, even if not considered to be hotspots, have genomic features comparable to POLEmut.

conclusionsThe present findings confirm the absence of significant genomic differences among POLEmut patients regardless of multiple-classifier status or association with high-risk clinical features. Prognostic data will be essential to elucidate the clinical significance of POLE mutations not classified as hotspots that exhibit genomic characteristics similar to those in POLEmut patients.

Indexed as

DNA Polymerase IIEndometrial NeoplasmsMutationPoly-ADP-Ribose Binding ProteinsAdultAgedAged, 80 and overFemaleGenomicsHumansMiddle AgedPrognosisProspective StudiesDNA Polymerase IIPOLE protein, humanPoly-ADP-Ribose Binding Proteinsadjuvant therapycomprehensive genomic profilingDNA polymerase epsilon (POLE)endometrial cancermolecular classificationPOLE hotspotsPOLE multiclassifier

Identifiers

PMID39865420
PMCPMC11771542

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.