Evidence map›Paper›PMID 41792463›Full record

ArticleEMBO molecular medicine2026

Cell-free DNA methylome and fragmentome analysis for relapse monitoring of Ewing sarcoma.

Sophie A Richardson, Aram Safrastyan, Mina Karimpour, Gayatri Gulati, Patrick J B Harker, Alan Redfern, Simon P Pearce, Vsevolod J Makeev, Bernadette Brennan, Alexander T J Lee and 6 more

Abstract read
In one paragraph

Article in EMBO molecular medicine, 2026. 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. Article
  2. Review
  3. 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

16 authors.

Sophie A Richardson *Cancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0000-0002-8101-7810
Aram Safrastyan *Cancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0000-0003-0325-6549
Mina Karimpour *Cancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0000-0002-4169-0736
Gayatri GulatiCancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0009-0007-6377-060X
Patrick J B HarkerCancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0000-0002-2531-8774
Alan RedfernCancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0009-0000-8381-5624
Simon P PearceCancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0000-0002-1680-5538
Vsevolod J MakeevCancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0000-0001-9405-9748
Bernadette BrennanRoyal Manchester Children's Hospital, Oxford Road, Manchester, M13 9WL, UK.ORCID 0000-0003-1614-0289
Alexander T J LeeThe Christie NHS Foundation Trust, Manchester, M20 4BX, UK.ORCID 0000-0003-2976-6811
Alexandra ClipsonCancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0000-0002-4568-4173
Steven M HillCancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0000-0002-5909-692X
Caroline DiveCancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0000-0002-1726-8850
Dominic G RothwellCancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK.ORCID 0000-0002-8757-3893
Martin G McCabeThe Christie NHS Foundation Trust, Manchester, M20 4BX, UK. martin.mccabe@manchester.ac.uk.ORCID 0000-0002-5138-0707
Florent MouliereCancer Research UK National Biomarker Centre, University of Manchester, Manchester, M20 4BX, UK. florent.mouliere@cruk.manchester.ac.uk.ORCID 0000-0001-7043-0514

Funding

Cancer Research UK (CRUK) CTRNBC-2022/100001Children's Cancer Research Fund (CCRF) DIVE/2023
6 · The paper itself

Abstract

Liquid biopsies and cell-free DNA (cfDNA) offer minimally invasive methods for the diagnosis and monitoring of Ewing Sarcoma (EwS). EwS have a low tumour mutational burden and their detection with plasma cfDNA is challenging. We hypothesised that analysing the cfDNA methylome and fragmentome could enhance sensitivity for detecting EwS and identifying disease recurrence. Using T7-MBD-seq, we conducted whole-genome and methylome sequencing of cfDNA from 87 serial samples of 23 patients with EwS and 3 patients with CIC-rearranged sarcoma (CIC). With EwingSign, a new machine learning model, we identified EwS or CIC in a test set for 11 out of 16 patients at diagnosis and 15 out of 18 clinically confirmed relapse events. 0 out of 24 non-cancer controls (NCC) were detected positive with EwingSign. When combined with global and regional fragmentome analysis, all 18 relapse cases were detected, with 15/18 detected by 2 or more modalities, and 1 out of 24 NCC was detected by one modality. These findings indicate that cfDNA methylome and fragmentome analysis, if validated in a larger cohort, could improve disease detection, monitoring and relapse identification in patients with EwS.

Indexed as

Cell-Free Nucleic AcidsDNA MethylationEpigenomeSarcoma, EwingAdolescentChildFemaleHumansLiquid BiopsyMaleRecurrenceCell-Free Nucleic AcidsCell-Free DNAEwing SarcomaFragmentomicsLiquid BiopsyMethylome

Identifiers

PMID41792463
PMCPMC13084053

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.