Evidence map›Paper›PMID 29489755›Full record

ArticleNature2018

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Xiaotu Ma, Yu Liu, Yanling Liu, Ludmil B Alexandrov, Michael N Edmonson, Charles Gawad, Xin Zhou, Yongjin Li, Michael C Rusch, John Easton and 23 more

Open access · hybridAbstract read
In one paragraph

Article in Nature, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 590 papers.

0numbers the graph read from it
0cells of the map it votes in
590citing papers in PubMed
34.2field-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

590 citing papers in PubMed, 924 citations in OpenAlex.

  1. Hematopoietic Stem Cell Transplantation Outcomes for High-Risk AML: A Report From the Children's Oncology Group.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025
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530 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

33 authors at 9 institutions in 1 country.

Xiaotu MaComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Yu LiuComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Yanling LiuComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Ludmil B AlexandrovDepartment of Cellular and Molecular Medicine and Department of Bioengineering and Moores Cancer Center, University of California, San Diego, La Jolla, California 92093, USA.
Michael N EdmonsonComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Charles GawadComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Xin ZhouComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Yongjin LiComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Michael C RuschComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
John EastonComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Robert HuetherIndependent Researcher, Chicago, Illinois 60654, USA.
Veronica Gonzalez-PenaOncology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Mark R WilkinsonComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Leandro C HermidaOffice of Cancer Genomics, National Cancer Institute, Bethesda, Maryland 20892, USA.
Sean DavisGenetics Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA.
Edgar SiosonComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Stanley PoundsDepartment of Biostatistics, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Xueyuan CaoDepartment of Biostatistics, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Rhonda E RiesClinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
Zhaoming WangComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Xiang ChenComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Li DongComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Sharon J DiskinDivision 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, Pennsylvania 19104, USA.
Malcolm A SmithCancer Therapy Evaluation Program, National Cancer Institute, Bethesda, Maryland 20892, USA.
Jaime M Guidry AuvilOffice of Cancer Genomics, National Cancer Institute, Bethesda, Maryland 20892, USA.
Paul S MeltzerGenetics Branch, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA.
Ching C LauDivision of Hematology-Oncology, Connecticut Children's Medical Center, Hartford, Connecticut 06106, USA.
Elizabeth J PerlmanDepartment of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Robert H. Lurie Cancer Center, Northwestern University, Chicago, Illinois 60208, 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, Pennsylvania 19104, USA.
Soheil MeshinchiClinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
Stephen P HungerDivision 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, Pennsylvania 19104, USA.
Daniela S GerhardOffice of Cancer Genomics, National Cancer Institute, Bethesda, Maryland 20892, USA.
Jinghui ZhangComputational Biology, St Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
St. Jude Children's Research Hospital · USNational Cancer Institute · USFred Hutch Cancer Center · USUniversity of Pennsylvania · USCenter for Cancer Research · USChildren's Hospital of Philadelphia · USJackson Laboratory · USLa Jolla Bioengineering Institute · USNorthwestern University · US

Funding

COG FOREIGN ACCRUALU10CA098543 · NCI · NATIONAL CHILDHOOD CANCER FOUNDATION · PI ADAMSON, PETER C. · 2003 to 2013
$335.5M
Viral Vector Technology (VVTSR)P30CA021765 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI CHARLES ROBERTS · 1985 to 2026
$166.9M
NCI NIH HHS CA21765NCI NIH HHS HHSN261200800001ENCI NIH HHS P30 CA021765NCI NIH HHS U10 CA098543
6 · The paper itself

Abstract

Analysis of molecular aberrations across multiple cancer types, known as pan-cancer analysis, identifies commonalities and differences in key biological processes that are dysregulated in cancer cells from diverse lineages. Pan-cancer analyses have been performed for adult but not paediatric cancers, which commonly occur in developing mesodermic rather than adult epithelial tissues. Here we present a pan-cancer study of somatic alterations, including single nucleotide variants, small insertions or deletions, structural variations, copy number alterations, gene fusions and internal tandem duplications in 1,699 paediatric leukaemias and solid tumours across six histotypes, with whole-genome, whole-exome and transcriptome sequencing data processed under a uniform analytical framework. We report 142 driver genes in paediatric cancers, of which only 45% match those found in adult pan-cancer studies; copy number alterations and structural variants constituted the majority (62%) of events. Eleven genome-wide mutational signatures were identified, including one attributed to ultraviolet-light exposure in eight aneuploid leukaemias. Transcription of the mutant allele was detectable for 34% of protein-coding mutations, and 20% exhibited allele-specific expression. These data provide a comprehensive genomic architecture for paediatric cancers and emphasize the need for paediatric cancer-specific development of precision therapies.

Indexed as

Gene Expression ProfilingGene Expression Regulation, NeoplasticAllelesAneuploidyChildDNA Copy Number VariationsExomeGenome, HumanHumansLeukemiaMutationMutation RateNeoplasmsOncogenesPrecision MedicineUltraviolet Rays

Identifiers

PMID29489755
PMCPMC5854542
OpenAlexW2789924919

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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.