Evidence map›Paper›PMID 20730472›Full record

ArticleJournal of neuro-oncology2011

Temporal lobe pleomorphic xanthoastrocytoma and acquired BRAF mutation in an adolescent with the constitutional 22q11.2 deletion syndrome.

Jeffrey C Murray, David J Donahue, Saleem I Malik, Yvette B Dzurik, Emily Z Braly, Margaret J Dougherty, Katherine W Eaton, Jaclyn A Biegel

Abstract readCase Reports
In one paragraph

Article in Journal of neuro-oncology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.8field-weighted citation impact, top 29% 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

10 citing papers in PubMed, 20 citations in OpenAlex.

  1. Gynecologic oncology reports · 2025
    Article
  2. Paediatric low-grade glioma: the role of classical pathology in integrated diagnostic practice.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024
    Review
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Long-term epilepsy-associated tumors.Brain pathology (Zurich, Switzerland) · 2012
    Review
  10. Article
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

8 authors at 2 institutions in 1 country.

Jeffrey C MurrayNeurosciences Program, Hematology and Oncology Center, Cook Children's Medical Center, 901 Seventh Avenue, Suite 220, Fort Worth, TX 76104, USA. jmurray@cookchildrens.org
David J Donahue
Saleem I Malik
Yvette B Dzurik
Emily Z Braly
Margaret J Dougherty
Katherine W Eaton
Jaclyn A Biegel
Cook Children's Medical Center · USChildren's Hospital of Philadelphia · US

Funding

MOLECULAR CYTOGENETICS: PEDIATRIC CNS TUMORSR01CA046274 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI BIEGEL, JACLYN A · 1989 to 2012
$2.7M
Molecular Profiling and Candidate Gene Analysis in Pediatric GliomasR21CA133173 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI BIEGEL, JACLYN A · 2008 to 2009
$407k
NCI NIH HHS CA 133173NCI NIH HHS CA 46274NCI NIH HHS R01 CA046274NCI NIH HHS R21 CA133173
6 · The paper itself

Abstract

DiGeorge syndrome, or velocardiofacial syndrome (DGS/VCFS), is a rare and usually sporadic congenital genetic disorder resulting from a constitutional microdeletion at chromosome 22q11.2. While rare cases of malignancy have been described, likely due to underlying immunodeficiency, central nervous system tumors have not yet been reported. We describe an adolescent boy with DGS/VCFS who developed a temporal lobe pleomorphic xanthoastrocytoma. High-resolution single nucleotide polymorphism array studies of the tumor confirmed a constitutional 22q11.21 deletion, and revealed acquired gains, losses and copy number neutral loss of heterozygosity of several chromosomal regions, including a homozygous deletion of the CDKN2A/B locus. The tumor also demonstrated a common V600E mutation in the BRAF oncogene. This is the first reported case of a patient with DiGeorge syndrome developing a CNS tumor of any histology and expands our knowledge about low-grade CNS tumor molecular genetics.

Indexed as

Chromosome AberrationsAdolescentAstrocytomaChromosomes, Human, Pair 22HumansMagnetic Resonance ImagingMaleMutationProto-Oncogene Proteins B-rafBRAF protein, humanProto-Oncogene Proteins B-raf

Identifiers

PMID20730472
PMCPMC2998545
OpenAlexW2031996429

What OpenQuestion holds

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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.