Evidence map›Paper›PMID 33741928›Full record

ArticleNature communications2021

The transcriptional landscape of Shh medulloblastoma.

Patryk Skowron, Hamza Farooq, Florence M G Cavalli, A Sorana Morrissy, Michelle Ly, Liam D Hendrikse, Evan Y Wang, Haig Djambazian, Helen Zhu, Karen L Mungall and 89 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.

0numbers the graph read from it
0cells of the map it votes in
63citing papers in PubMed
5.1field-weighted citation impact, top 3% 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

63 citing papers in PubMed, 90 citations in OpenAlex.

  1. Review
  2. Article
  3. Pediatric medulloblastoma.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    Review
  4. Article
  5. Review
  6. Review
  7. Article
  8. Article
  9. Review
  10. Antibody-conjugated polymer nanoparticles for brain cancer.Drug delivery and translational research · 2025
    Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. The T cell receptor landscape of childhood brain tumors.Science translational medicine · 2025
    Article
  18. Contract to kill: GNAS mutation.Molecular cancer · 2025
    Review
  19. Article
  20. Article

3 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

99 authors at 20 institutions in 17 countries.

Patryk Skowron *Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Hamza Farooq *Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Florence M G Cavalli *Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
A Sorana Morrissy *Department of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
Michelle LyDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Liam D HendrikseDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-0253-8512
Evan Y WangDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-7984-3147
Haig DjambazianMcGill University Genome Centre, McGill University, Montreal, QC, Canada.ORCID http://orcid.org/0000-0003-0222-4182
Helen ZhuDepartment of Medical Biophysics, University of Toronto, Toronto, ON, Canada.
Karen L MungallCanada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, Canada.
Quang M TrinhComputational Biology Program, Ontario Institute for Cancer Research, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-3602-2290
Tina ZhengDepartment of Neurology, University of California San Francisco, San Francisco, CA, United States.
Shizhong DaiDepartment of Cellular and Molecular Pharmacology, University of California San Francisco, San Francisco, CA, United States.
Ana S Guerreiro StucklinDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-3136-9241
Maria C VladoiuDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Vernon FongDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-4064-8066
Borja L HolgadoDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Carolina NorDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Xiaochong WuDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Diala Abd-RabboComputational Biology Program, Ontario Institute for Cancer Research, Toronto, ON, Canada.
Pierre BérubéMcGill University Genome Centre, McGill University, Montreal, QC, Canada.ORCID http://orcid.org/0000-0002-1008-192X
Yu Chang WangMcGill University Genome Centre, McGill University, Montreal, QC, Canada.
Betty LuuDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Raul A SuarezDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Avesta RastanDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-8632-430X
Aaron H GillmorDepartment of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
John J Y LeeDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Xiao Yun ZhangDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Craig DanielsDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Peter DirksDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-5718-6465
David MalkinDepartment of Medical Biophysics, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-5752-9763
Eric BouffetThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.
Uri TaboriThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.
James LoukidesThe Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.
François P DozSIREDO Center (pediatric, adolescent and young adults oncology), Institut Curie, University of Paris, Paris, France.
Franck BourdeautSIREDO Center (pediatric, adolescent and young adults oncology), Institut Curie, University of Paris, Paris, France.
Olivier O DelattreINSERM U 830, Institut Curie, Paris, France.ORCID http://orcid.org/0000-0002-8730-2276
Julien Masliah-PlanchonUnit of Somatic Genetics, Institut Curie, Paris, France.
Olivier AyraultPSL Research University, Université Paris Sud, Université Paris-Saclay, CNRS UMR 3347, INSERM U1021, Institut Curie, Paris, France.ORCID http://orcid.org/0000-0002-7942-6674
Seung-Ki KimDepartment of Neurosurgery, Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul, South Korea.
David MeyronetHospices Civils de Lyon, Institute of Pathology, University Lyon 1, Department of Cancer Cell Plasticity-INSERM U1052 Cancer Research Center of Lyon, Lyon, France.
Wieslawa A GrajkowskaDepartment of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
Carlos G CarlottiDepartment of Surgery and Anatomy, Faculty of Medicine of Ribeirão Preto, University of Sao Paulo, São Paulo, Brazil.
Carmen de TorresDevelopmental Tumor Biology Laboratory, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
Jaume MoraDevelopmental Tumor Biology Laboratory, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
Charles G EberhartDepartments of Pathology, Ophthalmology and Oncology, John Hopkins University School of Medicine, Baltimore, MD, United States.
Erwin G Van MeirDepartment of Hematology & Medical Oncology, School of Medicine and Winship Cancer Institute, Emory University, Atlanta, GA, United States.
Toshihiro KumabeDepartment of Neurosurgery, Kitasato University School of Medicine, Sagamihara, Kanagawa, Japan.
Pim J FrenchDepartment of Neurology, Erasmus University Medical Center, Rotterdam, Netherlands.ORCID http://orcid.org/0000-0002-0668-9529
Johan M KrosDepartment of Pathology, Erasmus University Medical Center, Rotterdam, Netherlands.
Nada JabadoDivision of Experimental Medicine, McGill University, Montreal, QC, Canada.ORCID http://orcid.org/0000-0003-2485-3692
Boleslaw LachDepartment of Pathology and Molecular Medicine, Division of Anatomical Pathology, McMaster University, Hamilton, ON, Canada.
Ian F PollackDepartment of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States.
Ronald L HamiltonDepartment of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, United States.
Amulya A Nageswara RaoDivision of Pediatric Hematology/Oncology, Mayo Clinic, Rochester, MN, United States.
Caterina GianniniDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.ORCID http://orcid.org/0000-0003-2757-6782
James M OlsonClinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, WA, United States.
László BognárDepartment of Neurosurgery, University of Debrecen, Medical and Health Science Centre, Debrecen, Hungary.
Almos KleknerDepartment of Neurosurgery, University of Debrecen, Medical and Health Science Centre, Debrecen, Hungary.
Karel ZitterbartDepartment of Pediatric Oncology, Masaryk University School of Medicine, Brno, Czech Republic.
Joanna J PhillipsDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, United States.ORCID http://orcid.org/0000-0002-3789-8120
Reid C ThompsonDepartment of Neurological Surgery, Vanderbilt Medical Center, Nashville, TN, United States.
Michael K CooperDepartment of Neurology, Vanderbilt Medical Center, Nashville, TN, United States.
Joshua B RubinDepartments of Neuroscience, Washington University School of Medicine in St. Louis, St. Louis, MO, United States.ORCID http://orcid.org/0000-0002-7395-1937
Linda M LiauDepartment of Neurosurgery, David Geffen School of Medicine at UCLA, Los Angeles, California, United States.ORCID http://orcid.org/0000-0002-4053-0052
Miklós Garami2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.ORCID http://orcid.org/0000-0003-4298-2746
Peter Hauser2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary.
Kay Ka Wai LiDepartment of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong.
Ho-Keung NgDepartment of Anatomical and Cellular Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong.
Wai Sang PoonDepartment of Surgery, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong.
G Yancey GillespieDepartment of Neurosurgery, University of Alabama at Birmingham, Birmingham, AL, United States.
Jennifer A ChanCharbonneau Cancer Institute, University of Calgary, Calgary, AB, Canada.
Shin JungDepartment of Neurosurgery, Chonnam National University Research Institute of Medical Sciences, Chonnam National University Hwasun Hospital and Medical School, Hwasun-gun, Jeollanam-do, South Korea.
Roger E McLendonDepartment of Pathology, Duke University, Durham, NC, United States.
Eric M ThompsonDepartment of Neurosurgery, Duke University, Durham, NC, United States.
David ZagzagDepartment of Pathology and Neurosurgery, NYU Grossman School of Medicine and NYU Langone Health, New York, NY, United States.
Rajeev VibhakarDepartment of Pediatrics, University of Colorado Denver, Aurora, CO, United States.
Young Shin RaDepartment of Neurosurgery, University of Ulsan, Asan Medical Center, Seoul, South Korea.
Maria Luisa GarreU.O. Neurochirurgia, Istituto Giannina Gaslini, Genova, Italy.
Ulrich SchüllerInstitute of Neuropathology, University Medical Center, Hamburg-Eppendorf, Germany.ORCID http://orcid.org/0000-0002-8731-1121
Tomoko ShofudaDivision of Stem Cell Research, Institute for Clinical Research, Osaka National Hospital, Osaka, Japan.
Claudia C FariaDivision of Neurosurgery, Centro Hospitalar Lisboa Norte (CHULN), Hospital de Santa Maria, Lisbon, Portugal.
Enrique López-AguilarDivision of Pediatric Hematology/Oncology, Hospital Pediatría Centro Médico Nacional century XXI, Mexico City, Mexico.
Gelareh ZadehDivision of Neurosurgery, Toronto Western Hospital, University Health Network, Toronto, ON, Canada.
Chi-Chung HuiDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Vijay RamaswamyDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-6557-895X
Swneke D BaileyDepartment of Surgery, Division of Thoracic and Upper Gastrointestinal Surgery, Faculty of Medicine, McGill University, Montreal, QC, Canada.
Steven J JonesCanada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, Canada.ORCID http://orcid.org/0000-0003-3394-2208
Andrew J MungallCanada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, Canada.ORCID http://orcid.org/0000-0002-0905-2742
Richard A MooreCanada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, Canada.
John A CalarcoDepartment of Cell & Systems Biology, University of Toronto, Toronto, ON, Canada.
Lincoln D SteinDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Gary D BaderDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0003-0185-8861
Jüri ReimandDepartment of Medical Biophysics, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0002-2299-2309
Jiannis RagoussisMcGill University Genome Centre, McGill University, Montreal, QC, Canada.ORCID http://orcid.org/0000-0002-8515-0934
William A WeissDepartment of Neurology, University of California San Francisco, San Francisco, CA, United States.
Marco A MarraCanada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, Canada.ORCID http://orcid.org/0000-0001-7146-7175
Hiromichi SuzukiDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. hisuzuki-ngy@umin.ac.jp.ORCID http://orcid.org/0000-0002-8858-0294
Michael D TaylorDevelopmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. mdt.cns@gmail.com.ORCID http://orcid.org/0000-0001-7009-3466
University of Toronto · CAHospital for Sick Children · CABC Cancer Agency · CAOntario Institute for Cancer Research · CAMcGill Genome Centre · CAUniversity of California, San Francisco · USChinese University of Hong Kong · HKUniversity of Calgary · CADuke University · USErasmus MC · NLHospital Sant Joan de Déu Barcelona · ESMayo Clinic in Arizona · USSemmelweis University · HUUniversité Paris Cité · FRUniversity of Debrecen · HUUniversity of Pittsburgh · USAsan Medical Center · KRCentro Medico Nacional Siglo XXI · MXChildren's Memorial Health Institute · PLChonnam National University Hwasun Hospital · KR

Funding

Women's Cancer Research ProgramP30CA014236 · NCI · DUKE UNIVERSITY · PI DONNA NIEDZWIECKI · 1985 to 2026
$174.8M
Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3M
Tissue CoreP50CA097257 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Joseph F Costello · 2002 to 2026
$57.4M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007618 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ANDERSON, MARK S · 1985 to 2020
$29.6M
UCLA SPORE in Brain CancerP50CA211015 · NCI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI David A. Nathanson · 2017 to 2026
$25.2M
TR&D 3 - Network Guided Machine LearningP41GM103504 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI IDEKER, TREY · 2012 to 2024
$17.3M
Medical Scientist Training Program (T32 NRSA Training Grant)T32GM141323 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Aimee Kao · 2021 to 2026
$10.5M
Mouse models to discover new drivers of medulloblastomaR01CA159859 · NCI · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Michael D. Taylor, WILLIAM A WEISS · 2011 to 2026
$10.4M
Training Program in Translational Brain Tumor ResearchT32CA151022 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Joseph F Costello · 2010 to 2026
$6.6M
Testing a cancer patient-specific SARS-CoV-2 vaccine in chemotherapy- and radiation-treated pediatric brain tumor mouse modelsR01CA114567 · NCI · SEATTLE CHILDREN'S HOSPITAL · PI OLSON, JAMES M · 2006 to 2023
$4.9M
Prevention and treatment of lethal metastases in group 3 medulloblastomaR01NS106155 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI TAYLOR, MICHAEL D., WEISS, WILLIAM A · 2018 to 2022
$2.8M
Medulloblastoma and MetastasesR01CA148699 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI TAYLOR, MICHAEL D., WEISS, WILLIAM A · 2010 to 2014
$2.4M
Cancer Research UKCCR NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001ENCI NIH HHS P30 CA014236NCI NIH HHS P30 CA015083NCI NIH HHS P50 CA097257NCI NIH HHS P50 CA211015NCI NIH HHS R01 CA114567NCI NIH HHS R01 CA148699NCI NIH HHS R01 CA159859NCI NIH HHS R01 CA235162NCI NIH HHS T32 CA151022NHLBI NIH HHS HHSN268201000029CNIGMS NIH HHS P41 GM103504NIGMS NIH HHS T32 GM007618NIGMS NIH HHS T32 GM141323NINDS NIH HHS R01 NS106155
6 · The paper itself

Abstract

Sonic hedgehog medulloblastoma encompasses a clinically and molecularly diverse group of cancers of the developing central nervous system. Here, we use unbiased sequencing of the transcriptome across a large cohort of 250 tumors to reveal differences among molecular subtypes of the disease, and demonstrate the previously unappreciated importance of non-coding RNA transcripts. We identify alterations within the cAMP dependent pathway (GNAS, PRKAR1A) which converge on GLI2 activity and show that 18% of tumors have a genetic event that directly targets the abundance and/or stability of MYCN. Furthermore, we discover an extensive network of fusions in focally amplified regions encompassing GLI2, and several loss-of-function fusions in tumor suppressor genes PTCH1, SUFU and NCOR1. Molecular convergence on a subset of genes by nucleotide variants, copy number aberrations, and gene fusions highlight the key roles of specific pathways in the pathogenesis of Sonic hedgehog medulloblastoma and open up opportunities for therapeutic intervention.

Indexed as

Gene Expression Regulation, NeoplasticTranscriptomeAdolescentAdultCerebellar NeoplasmsChildChild, PreschoolFemaleGene Regulatory NetworksGenetic VariationHedgehog ProteinsHumansInfantMaleMedulloblastomaMiddle AgedHedgehog ProteinsSHH protein, human

Identifiers

PMID33741928
PMCPMC7979819
OpenAlexW3138519498

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

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.