Evidence map›Paper›PMID 23633565›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2013

Genomic analysis of diffuse pediatric low-grade gliomas identifies recurrent oncogenic truncating rearrangements in the transcription factor MYBL1.

Lori A Ramkissoon, Peleg M Horowitz, Justin M Craig, Shakti H Ramkissoon, Benjamin E Rich, Steven E Schumacher, Aaron McKenna, Michael S Lawrence, Guillaume Bergthold, Priscilla K Brastianos and 27 more

Open access · greenAbstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
116citing papers in PubMed, 2 pooled it
13.2field-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

116 citing papers in PubMed, 2 syntheses or guidelines pooled it, 223 citations in OpenAlex.

  1. Molecular Biomarker Testing for the Diagnosis of Diffuse Gliomas.Archives of pathology & laboratory medicine · 2022
    Guideline
  2. Pooled it
  3. Trial
  4. Review
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Extra-temporal pediatric low-grade gliomas and epilepsy.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024
    Review
  12. Gene Expression Aberrations in Alcohol-Associated Hepatocellular Carcinoma.International journal of molecular sciences · 2024
    Article
  13. Review
  14. Article
  15. Article
  16. T2-FLAIR Mismatch: An Imaging Biomarker for Children'sAJNR. American journal of neuroradiology · 2024
    Article
  17. Review
  18. Article
  19. Review
  20. Astrocytoma with high-grade features and MYBL1-MMP16 fusion.Surgical neurology international · 2024
    Article

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

37 authors at 17 institutions in 4 countries.

Lori A RamkissoonDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02115, USA.
Peleg M Horowitz
Justin M Craig
Shakti H Ramkissoon
Benjamin E Rich
Steven E Schumacher
Aaron McKenna
Michael S Lawrence
Guillaume Bergthold
Priscilla K Brastianos
Barbara Tabak
Matthew D Ducar
Paul Van Hummelen
Laura E MacConaill
Tina Pouissant-Young
Yoon-Jae Cho
Hala Taha
Madeha Mahmoud
Daniel C Bowers
Linda Margraf
Uri Tabori
Cynthia Hawkins
Roger J Packer
D Ashley Hill
Scott L Pomeroy
Charles G Eberhart
Ian F Dunn
Liliana Goumnerova
Gad Getz
Jennifer A Chan
Sandro Santagata
William C Hahn
Charles D Stiles
Azra H Ligon
Mark W Kieran
Rameen Beroukhim
Keith L Ligon
Harvard University Press · USHarvard University · USBroad Institute · USMassachusetts Institute of Technology · USBrigham and Women's Hospital · USChildren Cancer Hospital · EGCenter for Neurosciences · USChildren's National · USDana-Farber Cancer Institute · USHospital for Sick Children · CAJohns Hopkins University · USPediatric Oncology Group · CAStanford University · USThe University of Texas Southwestern Medical Center · USUniversity of Calgary · CAUniversity of Toronto · CAUniversity Radiology · US

Funding

Targeting the Vasular SystemP50CA165962 · NCI · MASSACHUSETTS GENERAL HOSPITAL · PI Benjamin Harris Kann · 2013 to 2026
$33.5M
SYNAPTIC MECHANISMS IN HIPPOCAMPAL EPILEPTOGENESISP30HD018655 · NICHD · CHILDREN'S HOSPITAL BOSTON · PI POMEROY, SCOTT LOREN · 1985 to 2015
$26.2M
Therapeutic Opportunities for Pediatric AstrocytomaP01CA142536 · NCI · DANA-FARBER CANCER INST · PI SEGAL, ROSALIND A. · 2011 to 2015
$7.9M
GENOMIC ANALYSIS OF MEDULLOBLASTOMASR01CA109467 · NCI · CHILDREN'S HOSPITAL BOSTON · PI MESIROV, JILL P., POMEROY, SCOTT LOREN · 2004 to 2015
$7.3M
High-resolution genome-wide mapping of structural mutations in prostate cancerK08CA122833 · NCI · DANA-FARBER CANCER INST · PI BEROUKHIM, RAMEEN · 2007 to 2011
$697k
NCI NIH HHS K08 CA122833NCI NIH HHS K08CA122833NCI NIH HHS P01 CA142536NCI NIH HHS P01CA142536NCI NIH HHS P50 CA165962NCI NIH HHS R01 CA109467NCI NIH HHS U54CA143789NICHD NIH HHS P30 HD018655
6 · The paper itself

Abstract

Pediatric low-grade gliomas (PLGGs) are among the most common solid tumors in children but, apart from BRAF kinase mutations or duplications in specific subclasses, few genetic driver events are known. Diffuse PLGGs comprise a set of uncommon subtypes that exhibit invasive growth and are therefore especially challenging clinically. We performed high-resolution copy-number analysis on 44 formalin-fixed, paraffin-embedded diffuse PLGGs to identify recurrent alterations. Diffuse PLGGs exhibited fewer such alterations than adult low-grade gliomas, but we identified several significantly recurrent events. The most significant event, 8q13.1 gain, was observed in 28% of diffuse astrocytoma grade IIs and resulted in partial duplication of the transcription factor MYBL1 with truncation of its C-terminal negative-regulatory domain. A similar recurrent deletion-truncation breakpoint was identified in two angiocentric gliomas in the related gene v-myb avian myeloblastosis viral oncogene homolog (MYB) on 6q23.3. Whole-genome sequencing of a MYBL1-rearranged diffuse astrocytoma grade II demonstrated MYBL1 tandem duplication and few other events. Truncated MYBL1 transcripts identified in this tumor induced anchorage-independent growth in 3T3 cells and tumor formation in nude mice. Truncated transcripts were also expressed in two additional tumors with MYBL1 partial duplication. Our results define clinically relevant molecular subclasses of diffuse PLGGs and highlight a potential role for the MYB family in the biology of low-grade gliomas.

Indexed as

3T3 CellsAllelesAnimalsBrain NeoplasmsCell Line, TumorChildChild, PreschoolCohort StudiesComparative Genomic HybridizationGliomaHumansMaleMiceMice, NudeMultigene FamilyMutationMYBL1 protein, humanProto-Oncogene ProteinsTrans-ActivatorsaCGHA-mybcancer

Identifiers

PMID23633565
PMCPMC3657784
OpenAlexW2110192484

What OpenQuestion holds

Textmetadata
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.