Evidence map›Paper›PMID 23583981›Full record

ArticleNature genetics2013

Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas.

Jinghui Zhang, Gang Wu, Claudia P Miller, Ruth G Tatevossian, James D Dalton, Bo Tang, Wilda Orisme, Chandanamali Punchihewa, Matthew Parker, Ibrahim Qaddoumi and 39 more

Abstract read
In one paragraph

Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 493 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
493citing papers in PubMed, 2 pooled it
36.2field-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

493 citing papers in PubMed, 2 syntheses or guidelines pooled it, 835 citations in OpenAlex.

  1. Molecular features in gangliogliomas: a systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    Pooled it
  2. Prognostic factors in diffuse leptomeningeal glioneuronal tumor (DLGNT): a systematic review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022
    Pooled it
  3. Trial
  4. FDA Approval Summary: Tovorafenib for Relapsed or Refractory BRAF-Altered Pediatric Low-Grade Glioma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
    Trial
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  7. Pediatric low-grade glial, glioneuronal and neuronal tumors: a retrospective study of 85 cases.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026
    Article
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433 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

49 authors at 3 institutions in 2 countries.

Jinghui ZhangDepartment of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Gang Wu
Claudia P Miller
Ruth G Tatevossian
James D Dalton
Bo Tang
Wilda Orisme
Chandanamali Punchihewa
Matthew Parker
Ibrahim Qaddoumi
Fredrick A Boop
Charles Lu
Cyriac Kandoth
Li Ding
Ryan Lee
Robert Huether
Xiang Chen
Erin Hedlund
Panduka Nagahawatte
Michael Rusch
Kristy Boggs
Jinjun Cheng
Jared Becksfort
Jing Ma
Guangchun Song
Yongjin Li
Lei Wei
Jianmin Wang
Sheila Shurtleff
John Easton
David Zhao
Robert S Fulton
Lucinda L Fulton
David J Dooling
Bhavin Vadodaria
Heather L Mulder
Chunlao Tang
Kerri Ochoa
Charles G Mullighan
Amar Gajjar
Richard Kriwacki
Denise Sheer
Richard J Gilbertson
Elaine R Mardis
Richard K Wilson
James R Downing
Suzanne J Baker
David W Ellison
St. Jude Children’s Research Hospital–Washington University Pediatric Cancer Genome Project
St. Jude Children's Research Hospital · USWashington University in St. Louis · USQueen Mary University of London · GB

Funding

The DNA Damage Response and Tumorigenesis in the BrainP01CA096832 · NCI · ST. JUDE CHILDREN'S RESEARCH HOSPITAL · PI BAKER, SUZANNE J. · 2003 to 2025
$38.0M
An Investigation of Radial Glia as the Source of Ependymoma Stem CellsR01CA129541 · NCI · UNIVERSITY OF CAMBRIDGE · PI GILBERTSON, RICHARD · 2007 to 2016
$3.0M
NCI NIH HHS CA096832NCI NIH HHS P01 CA096832NCI NIH HHS R01 CA129541
6 · The paper itself

Abstract

The most common pediatric brain tumors are low-grade gliomas (LGGs). We used whole-genome sequencing to identify multiple new genetic alterations involving BRAF, RAF1, FGFR1, MYB, MYBL1 and genes with histone-related functions, including H3F3A and ATRX, in 39 LGGs and low-grade glioneuronal tumors (LGGNTs). Only a single non-silent somatic alteration was detected in 24 of 39 (62%) tumors. Intragenic duplications of the portion of FGFR1 encoding the tyrosine kinase domain (TKD) and rearrangements of MYB were recurrent and mutually exclusive in 53% of grade II diffuse LGGs. Transplantation of Trp53-null neonatal astrocytes expressing FGFR1 with the duplication involving the TKD into the brains of nude mice generated high-grade astrocytomas with short latency and 100% penetrance. FGFR1 with the duplication induced FGFR1 autophosphorylation and upregulation of the MAPK/ERK and PI3K pathways, which could be blocked by specific inhibitors. Focusing on the therapeutically challenging diffuse LGGs, our study of 151 tumors has discovered genetic alterations and potential therapeutic targets across the entire range of pediatric LGGs and LGGNTs.

Indexed as

AdolescentAnimalsBase SequenceBrain NeoplasmsChildChild, PreschoolFemaleGene DuplicationGene RearrangementGenes, mybGenome-Wide Association StudyGliomaHumansInfantMaleMiceBRAF protein, humanFGFR1 protein, humanMYBL1 protein, humanProto-Oncogene ProteinsProto-Oncogene Proteins B-rafReceptor, Fibroblast Growth Factor, Type 1Trans-Activators

Identifiers

PMID23583981
PMCPMC3727232
OpenAlexW2035346960

What OpenQuestion holds

Textmetadata
LicenceTDM
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.