Evidence map›Paper›PMID 39513940›Full record

ArticleClinical cancer research : an official journal of the American Association for Cancer Research2025

Genomic, Epigenomic, and Transcriptomic Inter- and Intratumor Heterogeneity in Desmoid Tumors.

Chelsea De Bellis, Sujay Vennam, Christopher Eeles, Pegah Rahimizadeh, Justin Cates, Thomas Stricker, Jenny Hoffman, Kristen Ganjoo, Gregory W Charville, Benjamin Haibe-Kains and 2 more

Abstract read
In one paragraph

Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

12 authors.

Chelsea De BellisDepartment of Surgery, McGill University, Montreal, Quebec, Canada.ORCID 0009-0009-8908-782X
Sujay VennamDepartment of Pathology, Stanford University School of Medicine, Stanford, California.ORCID 0000-0001-6312-1238
Christopher EelesPrincess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.ORCID 0000-0002-9962-7385
Pegah RahimizadehDepartment of Surgery, McGill University, Montreal, Quebec, Canada.ORCID 0000-0001-5828-8172
Justin CatesPathGroup Laboratories, Nashville, Tennessee.ORCID 0000-0002-7336-5196
Thomas StrickerOne Oncology, Nashville, Tennessee.ORCID 0000-0002-3602-9994
Jenny HoffmanDepartment of Pathology, Stanford University School of Medicine, Stanford, California.ORCID 0009-0006-6263-9282
Kristen GanjooDivision of Medical Oncology, Department of Medicine, Stanford University, Stanford, California.ORCID 0000-0003-0452-9967
Gregory W CharvilleDepartment of Pathology, Stanford University School of Medicine, Stanford, California.ORCID 0000-0002-2774-2704
Benjamin Haibe-KainsPrincess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.ORCID 0000-0002-7684-0079
Matt van de RijnDepartment of Pathology, Stanford University School of Medicine, Stanford, California.ORCID 0000-0002-1909-9739
Joanna PrzybylDepartment of Surgery, McGill University, Montreal, Quebec, Canada.ORCID 0000-0002-8162-5226

Funding

Translational Oncology Research Program (Project-005)P30CA124435 · NCI · STANFORD UNIVERSITY · PI Melinda L. Telli · 2007 to 2026
$71.4M
Desmoid Tumor Research Foundation (DTRF)Desmoid Tumour Foundation of CanadaNCI NIH HHS P30 CA124435
6 · The paper itself

Abstract

purposeDesmoid tumors are bland fibroblastic tumors that do not metastasize but have a high rate of local recurrence. Previously published studies proposed two different transcriptomic signatures to predict relapse. Molecular heterogeneity has been well established in high-grade sarcomas, but little is known about molecular variability within locally aggressive tumors such as desmoids. EXPERIMENTAL

designWe performed transcriptomic profiling of 31 specimens from 20 primary desmoid tumors to identify genes predictive of relapse. We also performed multiomic analysis including DNA methylation, copy-number alterations, point mutations, and gene expression on 24 specimens from different regions of primary and recurrent desmoid tumors from three patients (7-9 specimens per patient).

resultsWe observed highly variable expression of transcriptomic prognostic signatures both in patients who did and did not progress. Signatures associated with favorable and unfavorable outcomes were detected in different regions within the same tumor. Further multiomic studies showed remarkable intra- and intertumor heterogeneity of genomic, epigenomic, and transcriptomic patterns. The transcriptomic profiles showed the highest degree of variability within tumors and between primary and recurrent tumors from the same patient.

conclusionsThis study shows an unexpected degree of intra- and intertumor heterogeneity in desmoid tumors. Our analysis indicates that molecular analysis of a single-tumor biopsy may underestimate the magnitude of molecular alterations in desmoid tumors. Our study also shows that recurrent desmoid tumors acquire multiple new molecular alterations. Thus, molecular heterogeneity is an important consideration in drug development and validation of prognostic and predictive biomarkers for desmoid tumors.

Indexed as

Desmoid TumorsDNA MethylationGene Expression ProfilingTranscriptomeAdolescentAdultAgedChildDNA Copy Number VariationsEpigenomicsFemaleGene Expression Regulation, NeoplasticGenetic HeterogeneityGenomicsHumansMale

Identifiers

PMID39513940
PMCPMC11701430

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Registered trials

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