Evidence map›Paper›PMID 32010615›Full record

ArticleFrontiers in oncology2019

Somatic Mosaicism of IDH1 R132H Predisposes to Anaplastic Astrocytoma: A Case of Two Siblings.

Sulgi Lee, Madhuri Kambhampati, M Isabel Almira-Suarez, Cheng-Ying Ho, Eshini Panditharatna, Seth I Berger, Joyce Turner, David Van Mater, Lindsay Kilburn, Roger J Packer and 4 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Frontiers in oncology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 45% 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

1 citing paper in PubMed, 8 citations in OpenAlex.

  1. 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

14 authors at 5 institutions in 2 countries.

Sulgi LeeCenter for Genetic Medicine, Children's National Health System, Washington, DC, United States.
Madhuri KambhampatiCenter for Genetic Medicine, Children's National Health System, Washington, DC, United States.
M Isabel Almira-SuarezDepartment of Pathology and Laboratory Medicine, Children's National Health System, Washington, DC, United States.
Cheng-Ying HoDepartment of Pathology and Neurology, University of Maryland School of Medicine, Baltimore, MD, United States.
Eshini PanditharatnaPediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, United States.
Seth I BergerCenter for Genetic Medicine, Children's National Health System, Washington, DC, United States.
Joyce TurnerDivision of Genetics and Metabolism, Children's National Health System, Washington, DC, United States.
David Van MaterDivision of Pediatric Hematology Oncology, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.
Lindsay KilburnDivision of Oncology, Children's National Health System, Washington, DC, United States.
Roger J PackerBrain Tumor Institute, Children's National Health System, Washington, DC, United States.
John S MyserosDivision of Neurosurgery, Children's National Health System, Washington, DC, United States.
Eric VilainCenter for Genetic Medicine, Children's National Health System, Washington, DC, United States.
Javad NazarianCenter for Genetic Medicine, Children's National Health System, Washington, DC, United States.
Miriam BornhorstCenter for Genetic Medicine, Children's National Health System, Washington, DC, United States.
Children's National · USDana-Farber Cancer Institute · USDuke Medical Center · USGeorge Washington University · USUniversity of Maryland, Baltimore · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Anaplastic astrocytomas are aggressive glial cancers that present poor prognosis and high recurrence. Heterozygous IDH1 R132H mutations are common in adolescent and young adult anaplastic astrocytomas. In a majority of cases, the IDH1 R132H mutation is unique to the tumor, although rare cases of anaplastic astrocytoma have been described in patients with mosaic IDH1 mutations (Ollier disease or Maffucci syndrome). Here, we present two siblings with IDH1 R132H mutant high grade astrocytomas diagnosed at 14 and 26 years of age. Analysis of IDH

Indexed as

anaplastic astrocytomaAYA (adolescents and young adults)cancer predispositionddPCRIDH1 R132H mutationmosaicism

Identifiers

PMID32010615
PMCPMC6971203
OpenAlexW3000726558

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.