Evidence map›Paper›PMID 34156976›Full record

ArticleThe Journal of clinical investigation2021

The clear cell sarcoma functional genomic landscape.

Emanuele Panza, Benjamin B Ozenberger, Krystal M Straessler, Jared J Barrott, Li Li, Yanliang Wang, Mingchao Xie, Anne Boulet, Simon Wa Titen, Clinton C Mason and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in The Journal of clinical investigation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
3.8field-weighted citation impact, top 6% 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

14 citing papers in PubMed, 31 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Epigenetic determinants of fusion-driven sarcomas: paradigms and challenges.Frontiers in cell and developmental biology · 2024
    Article
  8. Melanin-targeted [European journal of nuclear medicine and molecular imaging · 2023
    Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. 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 4 institutions in 2 countries.

Emanuele PanzaDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Benjamin B OzenbergerDepartments of Orthopaedics and Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Krystal M StraesslerDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Jared J BarrottDepartments of Orthopaedics and Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Li LiDepartments of Orthopaedics and Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Yanliang WangDepartments of Orthopaedics and Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Mingchao XieDepartments of Medicine and Genetics, McDonnell Genome Institute, Siteman Cancer Center, Washington University School of Medicine, St. Louis, Missouri, USA.
Anne BouletDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Simon Wa TitenDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Clinton C MasonDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Alexander J LazarDepartments of Pathology and Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Li DingDepartments of Medicine and Genetics, McDonnell Genome Institute, Siteman Cancer Center, Washington University School of Medicine, St. Louis, Missouri, USA.
Mario R CapecchiDepartment of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Kevin B JonesDepartments of Orthopaedics and Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
University of Utah · USHuntsman Cancer Institute · USCancer Genetics (United States) · USThe University of Texas MD Anderson Cancer Center · US

Funding

Targeting of Genes in the Mammalian GenomeR01CA210165 · NCI · UNIVERSITY OF UTAH · PI CAPECCHI, MARIO R · 2016 to 2020
$2.4M
From Defective Microglia to Cortical Activity and Pathological BehaviorR01MH093595 · NIMH · UNIVERSITY OF UTAH · PI CAPECCHI, MARIO R · 2011 to 2015
$2.1M
NCI NIH HHS R01 CA210165NIMH NIH HHS R01 MH093595
6 · The paper itself

Abstract

Clear cell sarcoma (CCS) is a deadly malignancy affecting adolescents and young adults. It is characterized by reciprocal translocations resulting in expression of the chimeric EWSR1-ATF1 or EWSR1-CREB1 fusion proteins, driving sarcomagenesis. Besides these characteristics, CCS has remained genomically uncharacterized. Copy number analysis of human CCSs showed frequent amplifications of the MITF locus and chromosomes 7 and 8. Few alterations were shared with Ewing sarcoma or desmoplastic, small round cell tumors, which are other EWSR1-rearranged tumors. Exome sequencing in mouse tumors generated by expression of EWSR1-ATF1 from the Rosa26 locus demonstrated no other repeated pathogenic variants. Additionally, we generated a new CCS mouse by Cre-loxP-induced chromosomal translocation between Ewsr1 and Atf1, resulting in copy number loss of chromosome 6 and chromosome 15 instability, including amplification of a portion syntenic to human chromosome 8, surrounding Myc. Additional experiments in the Rosa26 conditional model demonstrated that Mitf or Myc can contribute to sarcomagenesis. Copy number observations in human tumors and genetic experiments in mice rendered, for the first time to our knowledge, a functional landscape of the CCS genome. These data advance efforts to understand the biology of CCS using innovative models that will eventually allow us to validate preclinical therapies necessary to achieve longer and better survival for young patients with this disease.

Indexed as

Gene AmplificationAnimalsCell Line, TumorChromosomes, Human, Pair 7Chromosomes, Human, Pair 8HumansMiceMicrophthalmia-Associated Transcription FactorOncogene Proteins, FusionSarcoma, Clear CellEWSR1-ATF1 fusion protein, humanEWSR1-CREB1 fusion protein, humanMicrophthalmia-Associated Transcription FactorMITF protein, humanOncogene Proteins, FusionCancerGeneticsMouse modelsOncogenesOncology

Identifiers

PMID34156976
PMCPMC8321568
OpenAlexW3173473574

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.