Evidence map›Paper›PMID 41053870›Full record

ArticleGenome medicine2025

Pathologist-initiated whole genome and transcriptome sequencing demonstrates diagnostic utility in resolving difficult-to-diagnose tumors.

Joseph H A Vissers, Catherine Mitchell, Owen W J Prall, Wing-Yee Lo, Sehrish Kanwal, Stephen J Luen, Stephen C Watts, Christopher M Angel, Christine Khoo, Jia-Min B Pang and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genome medicine, 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. 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

19 authors.

Joseph H A Vissers *Collaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia. joseph.vissers@unimelb.edu.au.
Catherine Mitchell *Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Owen W J Prall *Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Wing-Yee LoCollaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.
Sehrish KanwalCollaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.
Stephen J LuenSir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, Australia.
Stephen C WattsCollaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.
Christopher M AngelDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Christine KhooDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Jia-Min B PangDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
William K MurrayDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Cameron SnellDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Michael ChristieCollaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.
Richard J RebelloCollaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.
Richard W TothillCollaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.
Kym PhamCollaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.
Oliver HofmannCollaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia.
Stephen B FoxCollaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia. stephen.fox@petermac.org.
Sean M GrimmondCollaborative Centre for Genomic Cancer Medicine, University of Melbourne, Melbourne, VIC, Australia. sean.grimmond@unimelb.edu.au.

Funding

National Health and Medical Research Council APP1178568National Health and Medical Research Council GNT1193630
6 · The paper itself

Abstract

backgroundDespite significant advances in diagnostic cancer histopathology, a subset of tumors are unable to be classified using WHO criteria. The resulting diagnostic uncertainty can result in inappropriate clinical management and negative patient outcomes.

methodsWe investigated whether combining histopathology with whole genome and transcriptome sequencing (WGTS) could improve the classification of tumors that posed diagnostic dilemmas despite extensive histopathology and standard molecular work-up at a quaternary oncology center.

resultsWe successfully sequenced 45 tumors from an initial set of 54 unclassified tumors (83% success rate). A confident diagnosis was made for 35/45 tumors (78%). Additionally, potential treatment targets were identified in 21/45 tumors (47%). Theoretical comparison with alternative assays demonstrated that WGTS was uniquely capable of detecting critical diagnostic findings in 9/35 tumors (26%).

conclusionsThis work supports augmenting histopathology and standard molecular pathology with WGTS in the classification of difficult-to-diagnose tumors.

Indexed as

NeoplasmsTranscriptomeWhole Genome SequencingFemaleGene Expression ProfilingHumansPathologistsDiagnostic dilemmaDiagnostic histopathologyNext generation sequencingTumor classificationWhole genome and transcriptome sequencing

Identifiers

PMID41053870
PMCPMC12502407

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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.