Evidence map›Paper›PMID 33056981›Full record

ArticleNature communications2020

Pan-neuroblastoma analysis reveals age- and signature-associated driver alterations.

Samuel W Brady, Yanling Liu, Xiaotu Ma, Alexander M Gout, Kohei Hagiwara, Xin Zhou, Jian Wang, Michael Macias, Xiaolong Chen, John Easton and 14 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06502210 (Identification of New Gene Spliceosomes in Neuroblastoma and Their Translational Application in Clinical Accurate Diagnosis and Therapy), which is not on this map. Cited by 116 papers.

0numbers the graph read from it
0cells of the map it votes in
116citing papers in PubMed
8.1field-weighted citation impact, top 2% 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.

NCT06502210 unknown statusnot on this mapstarted 2024, after this paper: background citation

Identification of New Gene Spliceosomes in Neuroblastoma and Their Translational Application in Clinical Accurate Diagnosis and Therapy

Typeobservational_patient_registrySponsorAffiliated Hospital of Nantong UniversityRan2024 to 2024Enrolled20ConditionsNeuroblastomaArmsPersonalized surgical therapy of neuroblastoma
3 · Its place in the literature

Who cites it

116 citing papers in PubMed, 170 citations in OpenAlex.

  1. Trial
  2. Epigenetic Liquid Biopsy Enables Universal Mutation-Agnostic Molecular Surveillance for High-Risk Neuroblastoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
    Article
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  19. Article
  20. Mutational signatures in hematological malignancies.Einstein (Sao Paulo, Brazil) · 2026
    Review

56 more citing papers are in PubMed but not listed here.

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

24 authors at 4 institutions in 1 country.

Samuel W BradyDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID 0000-0001-5518-7800
Yanling LiuDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Xiaotu MaDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Alexander M GoutDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Kohei HagiwaraDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Xin ZhouDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Jian WangDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Michael MaciasDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID 0000-0002-5933-8095
Xiaolong ChenDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID 0000-0001-8283-0582
John EastonDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Heather L MulderDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID 0000-0003-2024-9498
Michael RuschDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID 0000-0002-5363-1848
Lu WangDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.ORCID 0000-0002-0073-0666
Joy NakitandweDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Shaohua LeiDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Eric M DavisDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Arlene NaranjoDepartment of Biostatistics, University of Florida, Children's Oncology Group Statistics & Data Center, Gainesville, FL, USA.
Cheng ChengDepartment of Biostatistics, St. Jude Children's Research Hospital, Memphis, TN, USA.
John M MarisDivision of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
James R DowningDepartment of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA.
Nai-Kong V CheungDepartment of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.ORCID 0000-0001-6323-5171
Michael D HogartyDivision of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. hogartym@email.chop.edu.ORCID 0000-0002-9221-4852
Michael A DyerDepartment of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, TN, USA. Michael.Dyer@StJude.org.ORCID 0000-0003-4027-4850
Jinghui ZhangDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, TN, USA. Jinghui.Zhang@StJude.org.ORCID 0000-0003-3350-9682
St. Jude Children's Research Hospital · USChildren's Hospital of Philadelphia · USMemorial Sloan Kettering Cancer Center · USUniversity of Florida · US

Funding

NCTN BIQSFP ANBL1531 (NRT)U10CA180886 · NCI · PUBLIC HEALTH INSTITUTE · PI Douglas S. Hawkins · 2014 to 2026
$390.6M
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9M
COG SDMC - Statistics CoreU10CA180899 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI TODD A ALONZO · 2014 to 2026
$132.8M
Discovering mechanisms of neuroblastoma tumorigenesis to improve patient outcomesR35CA220500 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI JOHN M MARIS · 2017 to 2026
$8.7M
Discovery of Somatic Noncoding Variants that Serve as Drivers in Pediatric CancersR01CA216391 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI ZHANG, JINGHUI · 2018 to 2022
$2.8M
NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA021765NCI NIH HHS R01 CA216391NCI NIH HHS R35 CA220500NCI NIH HHS U10 CA180886NCI NIH HHS U10 CA180899
6 · The paper itself

Abstract

Neuroblastoma is a pediatric malignancy with heterogeneous clinical outcomes. To better understand neuroblastoma pathogenesis, here we analyze whole-genome, whole-exome and/or transcriptome data from 702 neuroblastoma samples. Forty percent of samples harbor at least one recurrent driver gene alteration and most aberrations, including MYCN, ATRX, and TERT alterations, differ in frequency by age. MYCN alterations occur at median 2.3 years of age, TERT at 3.8 years, and ATRX at 5.6 years. COSMIC mutational signature 18, previously associated with reactive oxygen species, is the most common cause of driver point mutations in neuroblastoma, including most ALK and Ras-activating variants. Signature 18 appears early and is continuous throughout disease evolution. Signature 18 is enriched in neuroblastomas with MYCN amplification, 17q gain, and increased expression of mitochondrial ribosome and electron transport-associated genes. Recurrent FGFR1 variants in six patients, and ALK N-terminal structural alterations in five samples, identify additional patients potentially amenable to precision therapy.

Indexed as

Gene Expression Regulation, NeoplasticAdolescentAdultAge FactorsAnaplastic Lymphoma KinaseBiomarkers, TumorChildChild, PreschoolCohort StudiesDatasets as TopicDNA Copy Number VariationsDNA Mutational AnalysisElectron TransportExomeFemaleHumansALK protein, humanAnaplastic Lymphoma KinaseBiomarkers, TumorFGFR1 protein, humanReceptor, Fibroblast Growth Factor, Type 1Ribosomal Proteins

Identifiers

PMID33056981
PMCPMC7560655
OpenAlexW3093008191

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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.