Evidence map›Paper›PMID 41591910›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2026

Integrated mutational landscape analysis of endometrial stromal sarcoma.

Tobias M P Hartwich, Seungji Choi, Ayoung Hwang, Stefania Bellone, Luca Palmieri, Hae Seo, Taekeun Kim, Juhyeon Hong, Camilla Krakstad, Jone Trovik and 29 more

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Article
  3. Reply to Hojný et al.: Fusion-driven vs. fusion-negative high-grade endometrial stromal sarcoma.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  4. Review
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

39 authors.

Tobias M P Hartwich *Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06510.
Seungji Choi *Department of Biomedical Sciences, Korea University College of Medicine, Seoul 02841, Korea.
Ayoung HwangDepartment of Biomedical Sciences, Korea University College of Medicine, Seoul 02841, Korea.
Stefania BelloneDepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06510.
Luca PalmieriDepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06510.
Hae SeoDepartment of Biomedical Sciences, Korea University College of Medicine, Seoul 02841, Korea.
Taekeun KimDepartment of Biomedical Sciences, Korea University College of Medicine, Seoul 02841, Korea.
Juhyeon HongDepartment of Biomedical Sciences, Korea University College of Medicine, Seoul 02841, Korea.ORCID 0009-0009-2070-3022
Camilla KrakstadCentre for Cancer Biomarkers, Department of Clinical Science, University of Bergen, Bergen 5020, Norway.
Jone TrovikCentre for Cancer Biomarkers, Department of Clinical Science, University of Bergen, Bergen 5020, Norway.
Ingunn M StefanssonCentre for Cancer Biomarkers, Department of Clinical Science, University of Bergen, Bergen 5020, Norway.
Hans Kristian HauglandDepartment of Pathology, Haukeland University Hospital, Bergen 5053, Norway.
Michelle GreenmanDepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06510.
Victoria EttorreDepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06510.
Sarah OttumDepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06510.
Cem DemirkiranDepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06510.
Yang Yang-HartwichDepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06510.
Natalia BuzaDepartment of Pathology, Yale University School of Medicine, New Haven, CT 06510.ORCID 0000-0002-0008-334X
Pei HuiDepartment of Pathology, Yale University School of Medicine, New Haven, CT 06510.
Salvatore LopezUnit of Gynecologic Oncology, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Tumori "Giovanni Paolo II", Bari 70124, Italy.
Gennaro CormioUnit of Gynecologic Oncology, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Tumori "Giovanni Paolo II", Bari 70124, Italy.
Mariantonietta RamunnoUnit of Pathology, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Tumori "Giovanni Paolo II", Bari 70124, Italy.
Alfredo ZitoUnit of Pathology, Istituto di Ricovero e Cura a Carattere Scientifico Istituto Tumori "Giovanni Paolo II", Bari 70124, Italy.
Emanuele PerroneUnit of Gynecologic Oncology, Department Woman and Child Health Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome 00168, Italy.
Anna FagottiUnit of Gynecologic Oncology, Department Woman and Child Health Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome 00168, Italy.
Francesco FanfaniUnit of Gynecologic Oncology, Department Woman and Child Health Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome 00168, Italy.
Angela SantoroPathology Unit, Department of Woman and Child's Health and Public Health Sciences, Fondazione Policlinico Universitario Agostino Gemelli Istituto di Ricovero e Cura a Carattere Scientifico, Rome 00168, Italy.
Antonella RavaggiDivision of Obstetrics and Gynecology, Azienda Socio Sanitaria Territoriale Spedali Civili di Brescia, Brescia 25123, Italy.ORCID 0000-0003-4661-9979
Eliana BignottiDivision of Obstetrics and Gynecology, Azienda Socio Sanitaria Territoriale Spedali Civili di Brescia, Brescia 25123, Italy.ORCID 0000-0001-6380-6181
Franco OdicinoDivision of Obstetrics and Gynecology, Azienda Socio Sanitaria Territoriale Spedali Civili di Brescia, Brescia 25123, Italy.
Laura ArdighieriUnit of Pathology, Azienda Socio Sanitaria Territoriale Spedali Civili di Brescia, Brescia 25123, Italy.
Elena RatnerDepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06510.
Roberto AngioliDepartment of Gynecology, Fondazione Policlinico Universitario Campus Bio-Medico, Roma 00128, Italy.
Giuseppe PerroneOperative Research Unit of Anatomical Pathology, Fondazione Policlinico Universitario Campus Bio-Medico, Roma 00128, Italy.
Daniela LuveroDepartment of Gynecology, Fondazione Policlinico Universitario Campus Bio-Medico, Roma 00128, Italy.
Beatrice ConcaDepartment of Obstetrics and Gynecology, Fondazione Policlinico Universitario Campus Bio-Medico, Roma 00128, Italy.
Jungmin ChoiDepartment of Biomedical Sciences, Korea University College of Medicine, Seoul 02841, Korea.ORCID 0000-0002-8614-0973
Joseph SchlessingerDepartment of Pharmacology, Yale University School of Medicine, New Haven, CT 06510.ORCID 0000-0002-5085-5969
Alessandro D SantinDepartment of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT 06510.ORCID 0000-0003-4724-9738

Funding

Yale Pathology Tissue Services Shared ResourceP30CA016359 · NCI · YALE UNIVERSITY · PI Eric P. Winer · 1985 to 2026
$85.0M
Integrated genomic analysis of racial disparities in endometrial cancerU01CA176067 · NCI · YALE UNIVERSITY · PI SANTIN, ALESSANDRO D · 2014 to 2018
$1.7M
HHS | NIH | NCI | Center for Cancer Research (CCR) CA-16359HHS | NIH | NCI | Center for Cancer Research (CCR) U01 CA176067-01A1Korea University Medical Center Grant local grantNCI NIH HHS P30 CA016359NCI NIH HHS U01 CA176067
6 · The paper itself

Abstract

Endometrial stromal sarcoma (ESS) is a rare uterine malignancy with limited treatment options. We performed integrated whole-genome, whole-exome, and transcriptome sequencing on 80 ESS tumors, comprising 32 low-grade (LG) and 48 high-grade (HG) tumors, to characterize their genetic landscape. The overall mutation burden was modest, with no significant difference between grades; however, we identified six hypermutated cases (7.5%) harboring POLE or mismatch repair mutations, genomic features predictive of immunotherapy response. We identified focal RAD54B amplifications in 15 tumors (18.8%), leading to elevated RAD54B expression and significantly shorter survival. This establishes RAD54B as an oncogenic driver in ESS. Known tumor suppressors (PTEN, TP53) were frequently mutated in HG-ESS but rare in LG-ESS, highlighting distinct grade-specific drivers of malignancy. HG-ESS exhibited widespread chromosomal gains, frequent loss of cell-cycle regulators (RB1, CDKN2A), and numerous private gene fusions arising from complex DNA rearrangements. In contrast, LG-ESS were defined by canonical fusions (e.g.,

Indexed as

Endometrial NeoplasmsMutationSarcoma, Endometrial StromalAnimalsDNA Mutational AnalysisExome SequencingFemaleHumansendometrial stromal sarcomasmutational landscapeRNAseqwhole-exome sequencingwhole-genome sequencing

Identifiers

PMID41591910
PMCPMC12867622

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.