Evidence map›Paper›PMID 29557778›Full record

ArticleeLife2018

Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy.

Simeon U Springer, Chung-Hsin Chen, Maria Del Carmen Rodriguez Pena, Lu Li, Christopher Douville, Yuxuan Wang, Joshua David Cohen, Diana Taheri, Natalie Silliman, Joy Schaefer and 30 more

Erratum issuedOpen access · goldAbstract read
In one paragraph

Article in eLife, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 117 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
117citing papers in PubMed, 3 pooled it
21.3field-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

117 citing papers in PubMed, 3 syntheses or guidelines pooled it, 183 citations in OpenAlex.

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  11. Advances in the management of localized bladder cancers.Nature reviews. Clinical oncology · 2026
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  19. Fragmentation signatures in cancer patients resemble those of patients with vascular or autoimmune diseases.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
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57 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

40 authors at 11 institutions in 6 countries.

Simeon U Springer *Howard Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.ORCID https://orcid.org/0000-0002-2891-2111
Chung-Hsin Chen *Department of Urology, National Taiwan University Hospital, Taipei, Taiwan.
Maria Del Carmen Rodriguez Pena *Department of Pathology, Johns Hopkins University, Baltimore, United States.ORCID http://orcid.org/0000-0002-3439-7013
Lu LiDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, United States.ORCID https://orcid.org/0000-0002-1920-4965
Christopher DouvilleDepartment of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, United States.ORCID http://orcid.org/0000-0002-2510-4151
Yuxuan WangHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.ORCID https://orcid.org/0000-0002-2932-6042
Joshua David CohenHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.ORCID http://orcid.org/0000-0003-1158-5668
Diana TaheriDepartment of Pathology, Johns Hopkins University, Baltimore, United States.
Natalie SillimanHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.
Joy SchaeferHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.
Janine PtakHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.
Lisa DobbynHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.
Maria PapoliHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.
Isaac KindeHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.
Bahman AfsariDepartment of Oncology, Johns Hopkins University, Baltimore, United States.
Aline C TregnagoDepartment of Pathology, Johns Hopkins University, Baltimore, United States.
Stephania M BezerraDepartment of Pathology, AC Camargo Cancer Center, Sao Paulo, Brazil.
Christopher VandenBusscheDepartment of Pathology, Johns Hopkins University, Baltimore, United States.
Kazutoshi FujitaDepartment of Pathology, Osaka University, Osaka, Japan.
Dilek ErtoyDepartment of Pathology, Hacettepe University, Ankara, Turkey.
Isabela W CunhaDepartment of Pathology, AC Camargo Cancer Center, Sao Paulo, Brazil.
Lijia YuDepartment of Pathology, University of Alabama at Birmingham, Birmingham, United States.ORCID https://orcid.org/0000-0001-6735-9569
Trinity J BivalacquaDepartment of Urology, Johns Hopkins University, Baltimore, United States.
Arthur P GrollmanDepartment of Pharmacological Sciences, Stony Brook University, Stony Brook, United States.
Luis A DiazDepartment of Medicine, Memorial Sloan Kettering Cancer Center, New York, United States.
Rachel KarchinDepartment of Biomedical Engineering, Institute for Computational Medicine, Johns Hopkins University, Baltimore, United States.
Ludmila DanilovaDivision of Biostatistics and Bioinformatics, Department of Oncology, Sidney Kimmel Cancer Center, Johns Hopkins School of Medicine, Baltimore, United States.
Chao-Yuan HuangDepartment of Urology, National Taiwan University Hospital, Taipei, Taiwan.
Chia-Tung ShunDepartment of Forensic Medicine and Pathology, National Taiwan University Hospital, Taipei, Taiwan.
Robert J TureskyMasonic Cancer Center, University of Minnesota, Minneapolis, United States.
Byeong Hwa YunMasonic Cancer Center, University of Minnesota, Minneapolis, United States.
Thomas A RosenquistDepartment of Pharmacological Sciences, Stony Brook University, Stony Brook, United States.
Yeong-Shiau PuDepartment of Urology, National Taiwan University Hospital, Taipei, Taiwan.
Ralph H HrubanDepartment of Pathology, Johns Hopkins University, Baltimore, United States.
Cristian TomasettiDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, United States.
Nickolas PapadopoulosHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.
Ken W KinzlerHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.
Bert VogelsteinHoward Hughes Medical Institute, Ludwig Center for Cancer Genetics and Therapeutics, Baltimore, United States.ORCID https://orcid.org/0000-0003-0766-3854
Kathleen G DickmanDepartment of Pharmacological Sciences, Stony Brook University, Stony Brook, United States.ORCID https://orcid.org/0000-0003-1308-2992
George J NettoDepartment of Pathology, Johns Hopkins University, Baltimore, United States.ORCID https://orcid.org/0000-0003-3915-9134
Howard Hughes Medical Institute · USJohns Hopkins University · USNational Taiwan University Hospital · TWStony Brook University · USAC Camargo Hospital · BRUniversity of Minnesota · USHacettepe University · TRIsfahan University of Medical Sciences · IRMemorial Sloan Kettering Cancer Center · USThe University of Osaka · JPUniversity of Alabama at Birmingham · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Translational Research Central ServicesP30CA006973 · NCI · JOHNS HOPKINS UNIVERSITY · PI Rosalie Wollett · 1985 to 2026
$208.6M
Women's CancerP30CA077598 · NCI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI Douglas Yee · 1998 to 2026
$100.4M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007309 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI COX, ANDREA L · 1985 to 2019
$43.2M
New biomonitoring methodologies to measure DNA adducts in human tissuesR01ES019564 · NIEHS · WADSWORTH CENTER · PI TURESKY, ROBERT J. · 2011 to 2020
$2.8M
NCI NIH HHS P30 CA006973NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA077598NIEHS NIH HHS R01 ES019564NIGMS NIH HHS T32 GM007309
6 · The paper itself

Abstract

Current non-invasive approaches for detection of urothelial cancers are suboptimal. We developed a test to detect urothelial neoplasms using DNA recovered from cells shed into urine. UroSEEK incorporates massive parallel sequencing assays for mutations in 11 genes and copy number changes on 39 chromosome arms. In 570 patients at risk for bladder cancer (BC), UroSEEK was positive in 83% of those who developed BC. Combined with cytology, UroSEEK detected 95% of patients who developed BC. Of 56 patients with upper tract urothelial cancer, 75% tested positive by UroSEEK, including 79% of those with non-invasive tumors. UroSEEK detected genetic abnormalities in 68% of urines obtained from BC patients under surveillance who demonstrated clinical evidence of recurrence. The advantages of UroSEEK over cytology were evident in low-grade BCs; UroSEEK detected 67% of cases whereas cytology detected none. These results establish the foundation for a new non-invasive approach for detection of urothelial cancer.

Indexed as

AneuploidyMutationAdolescentAdultAgedAged, 80 and overCarcinoma, Transitional CellChildChild, PreschoolEarly Detection of CancerFemaleGenetic TestingHumansMaleMiddle AgedSensitivity and SpecificityTelomeraseTERT protein, humanbladdercancercancer biologychromosomesgeneshumanliquid biopsyrenal pelvisureterurine

Identifiers

PMID29557778
PMCPMC5860864
OpenAlexW2765964920

What OpenQuestion holds

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Registered trials

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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.