Evidence map›Paper›PMID 41419736›Full record

ArticleNature communications2025

The molecular cartography of malignant and benign sebaceous tumours.

I Ferreira, O M Rueda, L van der Weyden, S Sahni, O Cast, K Wong, M Del Castillo Velasco-Herrera, H Caldwell, J M Boccacino, T Alegbe and 17 more

Abstract read
In one paragraph

Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Combined inverted follicular keratosis and adnexal tumors: a series of 12 cases.Virchows Archiv : an international journal of pathology · 2026
    Article
  2. Article
  3. The comparative pathology workbench: An update.Journal of pathology informatics · 2025
    Article
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

27 authors.

I FerreiraExperimental Cancer Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.ORCID http://orcid.org/0000-0002-4321-5250
O M Rueda *MRC Biostatistics Unit, University of Cambridge, Cambridge, United Kingdom.ORCID http://orcid.org/0000-0003-0008-4884
L van der Weyden *Experimental Cancer Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.ORCID http://orcid.org/0000-0002-0645-1879
S Sahni *Cancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, Bethesda, United States of America.
O Cast *Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, United Kingdom.ORCID http://orcid.org/0000-0002-5880-7726
K Wong *Experimental Cancer Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.ORCID http://orcid.org/0000-0002-0984-1477
M Del Castillo Velasco-HerreraExperimental Cancer Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.ORCID http://orcid.org/0000-0001-5956-0211
H CaldwellEdinburgh Pathology, Cancer Research UK Scotland Centre, The University of Edinburgh, Institute of Genetics & Cancer, Edinburgh, United Kingdom.
J M BoccacinoExperimental Cancer Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.ORCID http://orcid.org/0000-0001-6813-5217
T AlegbeOpen Targets, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.ORCID http://orcid.org/0000-0003-1622-0502
I MehtaExperimental Cancer Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.
A GunjurExperimental Cancer Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.ORCID http://orcid.org/0000-0001-9713-1872
P GuptaExperimental Cancer Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.ORCID http://orcid.org/0000-0003-4211-9125
V HarleExperimental Cancer Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom.
K KogaDepartment of Pathology, Faculty of Medicine, Fukuoka University Hospital, Fukuoka, Japan.
I MatzusakiDepartment of Diagnostic Pathology, Wakayama Medical University, Wakayama, Japan.
M FujimotoDepartment of Diagnostic Pathology, Wakayama Medical University, Wakayama, Japan.
K WiedemeyerDepartment of Pathology & Laboratory Medicine, The Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.
A Stratigos1st Department of Dermatology-Venereology, Andreas Sygros Hospital, National and Kapodistrian University of Athens School of Medicine, Athens, Greece.
A OniscuEdinburgh Pathology, Cancer Research UK Scotland Centre, The University of Edinburgh, Institute of Genetics & Cancer, Edinburgh, United Kingdom.
K WangCancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, Bethesda, United States of America.ORCID http://orcid.org/0000-0001-8923-8557
E RuppinCancer Data Science Laboratory, National Cancer Institute, National Institutes of Health, Bethesda, United States of America.ORCID http://orcid.org/0000-0002-7862-3940
P DemetterDepartment of Pathology, Institut Jules Bordet, Université Libre de Bruxelles, Brussels, Belgium.
I M FraylingInherited Tumour Syndromes Research Group, Institute of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, UK.ORCID http://orcid.org/0000-0002-3420-0794
M J ArendsEdinburgh Pathology, Cancer Research UK Scotland Centre, The University of Edinburgh, Institute of Genetics & Cancer, Edinburgh, United Kingdom.ORCID http://orcid.org/0000-0002-6826-8770
T BrennDepartment of Diagnostic Pathology, Kyoto University Hospital, Kyoto, Japan.
D J AdamsExperimental Cancer Genetics, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, United Kingdom. da1@sanger.ac.uk.ORCID http://orcid.org/0000-0001-9490-0306

Funding

Wellcome TrustWellcome Trust (Wellcome) 108413/A/15/D
6 · The paper itself

Abstract

Sebaceous tumours (STs) are rare skin appendage tumours and include benign sebaceous adenoma (SA) and sebaceoma (SM), malignant extra-ocular sebaceous carcinoma (SC-E) and peri-ocular sebaceous carcinoma (SC-O). Here, an extensive worldwide collection of 286 tumours is deeply characterised, revealing a propensity to develop in the context of a high tumour mutational burden (except in SC-O) which is most frequently associated with mismatch repair deficiency (dMMR), followed by UV-induced damage, POLE/POLD1 mutations, and AID/APOBEC activation signatures. Biallelic TP53 inactivation with concomitant ZNF750 and/or RB1 mutation is seen in SC-E/SC-O. Amplification of 8q (including MYC) is related to SC-O, while amplification of 1q21.3 (including HRNR) and chromosome 20 are shared by SC-O and SC-E, as is deletion of 13q14.3 (where RB1 resides). The most frequently mutated gene is NOTCH1. Extensive fusion gene, expression and molecular cluster analyses provide a molecular portrait of this rare and enigmatic tumour type.

Indexed as

Adenocarcinoma, SebaceousSebaceous Gland NeoplasmsAdenomaHumansMutationReceptor, Notch1Tumor Suppressor Protein p53Ubiquitin-Protein LigasesNOTCH1 protein, humanReceptor, Notch1Tumor Suppressor Protein p53Ubiquitin-Protein Ligases

Identifiers

PMID41419736
PMCPMC12764876

What OpenQuestion holds

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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.