Evidence map›Paper›PMID 38060240›Full record

ArticleClinical cancer research : an official journal of the American Association for Cancer Research2024

Circulating Tumor DNA Enables Sensitive Detection of Actionable Gene Fusions and Rearrangements Across Cancer Types.

Pashtoon M Kasi, Jessica K Lee, Lincoln W Pasquina, Brennan Decker, Pierre Vanden Borre, Dean C Pavlick, Justin M Allen, Christine Parachoniak, Julia C F Quintanilha, Ryon P Graf and 5 more

Open access · hybridAbstract read
In one paragraph

Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
10.3field-weighted citation impact, top 1% of its field
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

37 citing papers in PubMed, 43 citations in OpenAlex.

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  7. Pan-tumor validation of FoundationOneFrontiers in oncology · 2026
    Article
  8. Article
  9. Review
  10. Concordance between Tumor Tissue and Plasma DNA Genotyping in the NCI-MATCH Trial (EAY131).Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
    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

15 authors at 4 institutions in 2 countries.

Pashtoon M Kasi *Weill Cornell Medicine, Englander Institute of Precision Medicine, New York Presbyterian Hospital, New York, New York.ORCID 0000-0002-5169-7085
Jessica K Lee *Foundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0000-0002-4333-5092
Lincoln W PasquinaFoundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0009-0009-5461-9777
Brennan DeckerFoundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0000-0003-4516-7421
Pierre Vanden BorreFoundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0000-0002-0371-1954
Dean C PavlickFoundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0000-0001-6075-6246
Justin M AllenFoundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0009-0004-9209-6886
Christine ParachoniakFoundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0009-0002-3516-2686
Julia C F QuintanilhaFoundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0000-0001-6908-4474
Ryon P GrafFoundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0000-0002-8065-4148
Alexa B SchrockFoundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0000-0003-0106-9096
Geoffrey R OxnardFoundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0000-0003-1054-8240
Christine M LovlyVanderbilt University Medical Center, Nashville, Tennessee.ORCID 0000-0002-3641-6361
Hanna Tukachinsky *Foundation Medicine, Inc., Cambridge, Massachusetts.ORCID 0000-0002-0777-7555
Vivek Subbiah *The University of Texas MD Anderson Cancer Center, Houston, Texas.ORCID 0000-0002-6064-6837
GlobalFoundries (United States) · USNewYork–Presbyterian Hospital · USThe University of Texas MD Anderson Cancer Center · USVanderbilt University Medical Center · US

Funding

n/a
6 · The paper itself

Abstract

purposeGenomic rearrangements can generate potent oncogenic drivers or disrupt tumor suppressor genes. This study examines the landscape of fusions and rearrangements detected by liquid biopsy (LBx) of circulating tumor DNA (ctDNA) across different cancer types. EXPERIMENTAL

designLBx from 53,842 patients with 66 solid tumor types were profiled using FoundationOneLiquid CDx, a hybrid-capture sequencing platform that queries 324 cancer-related genes. Tissue biopsies (TBx) profiled using FoundationOneCDx were used as a comparator.

resultsAmong all LBx, 7,377 (14%) had ≥1 pathogenic rearrangement detected. A total of 3,648 (6.8%) LBx had ≥1 gain-of-function (GOF) oncogene rearrangement, and 4,428 (8.2%) LBx had ≥1 loss-of-function rearrangement detected. Cancer types with higher prevalence of GOF rearrangements included those with canonical fusion drivers: prostate cancer (19%), cholangiocarcinoma (6.4%), bladder (5.5%), and non-small cell lung cancer (4.4%). Although the prevalence of driver rearrangements was lower in LBx than TBx overall, the frequency of detection was comparable in LBx with a tumor fraction (TF) ≥1%. Rearrangements in FGFR2, BRAF, RET, and ALK, were detected across cancer types, but tended to be clonal variants in some cancer types and potential acquired resistance variants in others.

conclusionsIn contrast to some prior literature, this study reports detection of a wide variety of rearrangements in ctDNA. The prevalence of driver rearrangements in tissue and LBx was comparable when TF ≥1%. LBx presents a viable alternative when TBx is not available, and there may be less value in confirmatory testing when TF is sufficient.

Indexed as

Carcinoma, Non-Small-Cell LungCirculating Tumor DNALung NeoplasmsGene FusionGene RearrangementGenomicsHumansMaleCirculating Tumor DNA

Identifiers

PMID38060240
PMCPMC10870120
OpenAlexW4389432244

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.