Evidence map›Paper›PMID 40676318›Full record

ArticleNature medicine2025

Clinical utility of targeted RNA sequencing in cancer molecular diagnostics.

Robert Siddaway, Aida I Glembocki, Anthony Arnoldo, Jordan Staunton, Anthony P Y Liu, Kyoko E Yuki, Man Yu, Sarah Cohen-Gogo, Adam Shlien, Anita Villani and 12 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing 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

10 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Precision Oncology 2.0: Guiding Magic Bullets With Expression-Based Liquid Biopsy.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026
    Article
  6. Article
  7. Article
  8. Review
  9. Review
  10. Fusion-Negative Rhabdomyosarcoma: Clinical Application of Targeted RNA Sequencing.Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
    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

22 authors.

Robert Siddaway *Division of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada. robert.siddaway@sickkids.ca.ORCID http://orcid.org/0000-0003-2013-9467
Aida I Glembocki *Division of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0009-0007-5338-8693
Anthony ArnoldoDivision of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Jordan StauntonDivision of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.
Anthony P Y LiuDivision of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.
Kyoko E YukiDivision of Genome Diagnostics, Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-0726-3914
Man YuDivision of Genome Diagnostics, Hospital for Sick Children, Toronto, Ontario, Canada.
Sarah Cohen-GogoDivision of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-8852-1104
Adam ShlienDivision of Genome Diagnostics, Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-0368-5370
Anita VillaniDivision of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.
James A WhitlockDivision of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.
Johann HitzlerDivision of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0003-1158-186X
Uri TaboriDivision of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0002-5019-2683
Adrian B LevineDivision of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Anthea LafrenièreDivision of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Anita NagyDivision of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Haiying ChenDivision of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Bo-Yee NganDivision of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Gino R SomersDivision of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Mohamed AbdelhaleemDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.ORCID http://orcid.org/0000-0001-6595-6351
Rose ChamiDivision of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada.
Cynthia HawkinsDivision of Pathology, Hospital for Sick Children, Toronto, Ontario, Canada. cynthia.hawkins@sickkids.ca.ORCID http://orcid.org/0000-0003-2618-4402

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Molecular diagnostics in oncology uses next-generation sequencing to improve diagnostic precision, prognostic prediction and therapeutic target selection. To date, most approaches have focused on DNA-based sequencing. However, RNA sequencing (RNA-seq) enables superior fusion detection and functional characterization of other alterations including splice site mutations and expression changes. Here we report our prospective, real-world, clinical experience using a single, targeted RNA-seq assay on 2,310 solid, central nervous system and hematopoietic neoplasms from children and adults (range 0-90 years). RNA-seq performed as well as DNA-based diagnostics, with a 4.8% failure rate despite the fact that most samples were formalin fixed and paraffin embedded, and provided valuable molecular data for 87% of patients, including diagnostic alterations that resulted in revised diagnoses and the identification of clinically actionable alterations that led to a change in treatment for patients, including the administration of targeted therapies. Our experience supports the use of RNA-seq as a stand-alone tool for precision clinical diagnostics, minimizing cost, tissue requirement and turnaround time.

Indexed as

Molecular Diagnostic TechniquesNeoplasmsPathology, MolecularSequence Analysis, RNAAdolescentAdultAgedAged, 80 and overChildChild, PreschoolFemaleHigh-Throughput Nucleotide SequencingHumansInfantInfant, NewbornMale

Identifiers

What Socratic holds

Textmetadata
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 Socratic graph.