Evidence map›Paper›PMID 41512295›Full record

ArticleThe oncologist2026

DNA and RNA-based next-generation sequencing for companion diagnostic rearrangement detection in solid tumors.

Rachel B Keller-Evans, Jessica K Lee, Justin M Allen, Lei Zhong, Ole Gjoerup, Jeffrey S Ross, Amaya Gascó, Richard S P Huang

Abstract read
In one paragraph

Article in The oncologist, 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

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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
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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

8 authors.

Rachel B Keller-EvansFoundation Medicine, Inc., Boston, MA 02210, United States.ORCID 0000-0001-6138-9257
Jessica K LeeFoundation Medicine, Inc., Boston, MA 02210, United States.
Justin M AllenFoundation Medicine, Inc., Boston, MA 02210, United States.
Lei ZhongFoundation Medicine, Inc., Boston, MA 02210, United States.
Ole GjoerupFoundation Medicine, Inc., Boston, MA 02210, United States.ORCID 0000-0001-9127-8769
Jeffrey S RossFoundation Medicine, Inc., Boston, MA 02210, United States.
Amaya GascóFoundation Medicine, Inc., Boston, MA 02210, United States.
Richard S P HuangFoundation Medicine, Inc., Boston, MA 02210, United States.ORCID 0000-0001-8395-5168

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWhile a well-designed next-generation sequencing-based DNA (DNA-NGS) comprehensive genomic profiling assay can be robust for detecting genomic rearrangements (RE), concurrent RNA-based NGS (RNA-NGS) may improve overall sensitivity. PATIENTS &

methodsWe examined detection rates of tissue sequencing-based companion diagnostic (CDx) RE (ALK, BRAF, FGFR2/3, METEx14, NTRK1/2/3, NRG1, RET, and ROS1) in a retrospective cohort of 5129 patients who received DNA- and RNA-NGS in parallel in order to quantify the added value of concurrent DNA- and RNA-NGS over DNA-NGS alone.

resultsThe prevalence of CDx gene RE was 3.3% (N = 171) across solid tumors and 2.0% (N = 101) within approved tumor types (ITT) across both DNA and RNA. 20% of CDx RE ITT and 26% of CDx gene RE across solid tumors were detected with RNA-NGS only. Detection of NRG1 and NTRK fusions was most improved due to the challenges of baiting these genes on DNA-NGS with 67% of NRG1 RE+ non-small cell lung cancer (NSCLC) and 67% of NTRK RE+ solid tumors identified on RNA alone. A small proportion (4% ITT and 5% across all solid tumors) of CDx gene RE were detected in DNA alone in samples in which RNA could not be sequenced.

conclusionA higher rate of CDx RE detection-most significantly for NRG1 and NTRK fusions-was observed using concurrent DNA-NGS and RNA-NGS compared to DNA-NGS alone. Our results highlight the complementary nature of these methods. Given the substantial clinical benefit of RE-targeted therapies, an integrated DNA/RNA profiling strategy should be part of routine clinical care.

Indexed as

Gene RearrangementHigh-Throughput Nucleotide SequencingNeoplasmsFemaleHumansMaleRetrospective StudiesSequence Analysis, RNAcompanion diagnosticDNA-NGSgene fusiongene rearrangementRNA-NGS

Identifiers

PMID41512295
PMCPMC12923117

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