Evidence map›Paper›PMID 25000259›Full record

ArticleOncogenesis2014

ASXL1 and DNMT3A mutation in a cytogenetically normal B3 thymoma.

R Belani, G Oliveira, G A Erikson, S Ra, M S Schechter, J K Lee, W J Shipman, S M Haaser, A Torkamani

Open access · goldAbstract read
In one paragraph

Article in Oncogenesis, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 23% 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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.

  1. Pooled it
  2. The Molecular Landscape of Thymic Epithelial Tumors: A Comprehensive Review.International journal of molecular sciences · 2024
    Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. Genetic characterization of thymoma.Scientific reports · 2019
    Article
  9. Article
  10. PI3K as a Potential Therapeutic Target in Thymic Epithelial Tumors.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2016
    Article
  11. A genome sequencing program for novel undiagnosed diseases.Genetics in medicine : official journal of the American College of Medical Genetics · 2015
    Article
  12. 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

9 authors at 3 institutions in 1 country.

R BelaniMedical Oncology Associates of San Diego, San Diego, CA, USA.
G OliveiraScripps Genomic Medicine, The Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute, San Diego, CA, USA.
G A EriksonScripps Genomic Medicine, The Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute, San Diego, CA, USA.
S RaSan Diego Pathologists Medical Group, San Diego, CA, USA.
M S SchechterImaging Healthcare Specialists, San Diego, CA, USA.
J K LeeScripps Genomic Medicine, The Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute, San Diego, CA, USA.
W J ShipmanScripps Genomic Medicine, The Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute, San Diego, CA, USA.
S M HaaserScripps Genomic Medicine, The Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute, San Diego, CA, USA.
A TorkamaniScripps Genomic Medicine, The Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute, San Diego, CA, USA.
Scripps Health · USScripps Research Institute · USDermatology Specialists · US

Funding

SCRIPPS TRANSLATIONAL SCIENCE INSTITUTE (UL1)UL1RR025774 · NCRR · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2008 to 2011
$16.3M
Scripps Genome ADVISER: Annotation and Distributed Variant Interpretation SERverU01HG006476 · NHGRI · SCRIPPS HEALTH · PI TORKAMANI, ALI · 2012 to 2015
$1.1M
NCRR NIH HHS UL1 RR025774NHGRI NIH HHS U01 HG006476
6 · The paper itself

Abstract

The molecular drivers of thymoma are poorly understood. Outside of the identification of rarely occurring epidermal growth factor receptor and v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog mutations via candidate gene sequencing, mutations in common cancer genes have yet to be observed. Only a single thymoma genome sequence has been previously reported, with no mutations in known cancer genes identified. Thus, we attempted to identify somatic driver mutations in a cytogenetically normal thymoma. A stage IVB type B3 thymoma from a 47-year-old male of Asian descent with no history of myasthenia gravis or other autoimmune condition was genomically evaluated. Exome sequencing and low-pass whole-genome sequencing was performed to identify somatic point mutations, copy number changes and structural variants. Mutations in known tumor suppressors DNMT3A (p.G728D) and ASXL1 (p.E657fs), consistent with mutations of known consequence in acute myeloid leukemia, were identified. Contrary to a previous report, this finding suggests the genetic etiology of thymomas may not be fundamentally distinct from other tumor types. Rather, these findings suggest that further sequencing of cytogenetically normal thymoma samples should reveal the specific molecular drivers of thymoma.

Identifiers

PMID25000259
PMCPMC4150211
OpenAlexW2005121451

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.