Evidence map›Paper›PMID 22034177›Full record

ArticleGenes, chromosomes & cancer2012

Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data.

Lu Wang, Toru Motoi, Raya Khanin, Adam Olshen, Fredrik Mertens, Julia Bridge, Paola Dal Cin, Cristina R Antonescu, Samuel Singer, Meera Hameed and 4 more

Registry-linked trialOpen access · greenAbstract read
In one paragraph

Article in Genes, chromosomes & cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04305548 (Phase II Study on Trabectedin in Advanced Rearranged Mesenchymal Chondrosarcoma), which is not on this map. Cited by 136 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
136citing papers in PubMed, 1 pooled it
15.7field-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.

NCT04305548 phase2recruitingnot on this mapstarted 2021, after this paper: background citation

Phase II Study on Trabectedin in Advanced Rearranged Mesenchymal Chondrosarcoma

TypeinterventionalSponsorItalian Sarcoma GroupRan2021 to 2026Enrolled16ConditionsMesenchymal ChondrosarcomaArmsTrabectedin
3 · Its place in the literature

Who cites it

136 citing papers in PubMed, 1 synthesis or guideline pooled it, 336 citations in OpenAlex.

  1. CT and MRI findings of intracranial extraskeletal mesenchymal and myxoid chondrosarcoma: report of 3 rare cases and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Pooled it
  2. Trial
  3. Review
  4. Review
  5. Review
  6. First Report of Primary Mesenchymal Chondrosarcoma of the Urinary Bladder.International journal of surgical pathology · 2026
    Article
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. BAF complex-independent gene activation by SS18::SSX.bioRxiv : the preprint server for biology · 2026
    Article
  13. Maxillary mesenchymal chondrosarcoma harboringFrontiers in pediatrics · 2026
    Article
  14. Solitary fibrous tumor: an updated review.Journal of pathology and translational medicine · 2026
    Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review

76 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

14 authors at 6 institutions in 3 countries.

Lu WangDepartment of Pathology, Memorial Sloan-Kettering Cancer Center, New York, USA.
Toru Motoi
Raya Khanin
Adam Olshen
Fredrik Mertens
Julia Bridge
Paola Dal Cin
Cristina R Antonescu
Samuel Singer
Meera Hameed
Judith V M G Bovee
Pancras C W Hogendoorn
Nicholas Socci
Marc Ladanyi
Memorial Sloan Kettering Cancer Center · USLeiden University Medical Center · NLBrigham and Women's Hospital · USLund University · SEUCSF Helen Diller Family Comprehensive Cancer Center · USUniversity of Nebraska Medical Center · US

Funding

SOFT TISSUE SARCOMA PROGRAM PROJECTP01CA047179 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI LADANYI, MARC · 1989 to 2010
$17.3M
Project 5P01CA106450 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI O'REILLY, RICHARD JOHN · 2005 to 2009
$12.4M
SPORE in Soft Tissue SarcomaP50CA140146 · NCI · SLOAN-KETTERING INST CAN RESEARCH · PI SPRIGGS, DAVID R · 2010 to 2014
$11.1M
NCI NIH HHS P01 CA047179NCI NIH HHS P01 CA106450NCI NIH HHS P50 CA140146
6 · The paper itself

Abstract

Cancer gene fusions that encode a chimeric protein are often characterized by an intragenic discontinuity in the RNA\expression levels of the exons that are 5' or 3' to the fusion point in one or both of the fusion partners due to differences in the levels of activation of their respective promoters. Based on this, we developed an unbiased, genome-wide bioinformatic screen for gene fusions using Affymetrix Exon array expression data. Using a training set of 46 samples with different known gene fusions, we developed a data analysis pipeline, the "Fusion Score (FS) model", to score and rank genes for intragenic changes in expression. In a separate discovery set of 41 tumor samples with possible unknown gene fusions, the FS model generated a list of 552 candidate genes. The transcription factor gene NCOA2 was one of the candidates identified in a mesenchymal chondrosarcoma. A novel HEY1-NCOA2 fusion was identified by 5' RACE, representing an in-frame fusion of HEY1 exon 4 to NCOA2 exon 13. RT-PCR or FISH evidence of this HEY1-NCOA2 fusion was present in all additional mesenchymal chondrosarcomas tested with a definitive histologic diagnosis and adequate material for analysis (n = 9) but was absent in 15 samples of other subtypes of chondrosarcomas. We also identified a NUP107-LGR5 fusion in a dedifferentiated liposarcoma but analysis of 17 additional samples did not confirm it as a recurrent event in this sarcoma type. The novel HEY1-NCOA2 fusion appears to be the defining and diagnostic gene fusion in mesenchymal chondrosarcomas.

Indexed as

Exons5' Untranslated RegionsAmino Acid SequenceBase SequenceBasic Helix-Loop-Helix ProteinsBiomarkers, TumorBone NeoplasmsCell Cycle ProteinsCell Line, TumorChondrosarcoma, MesenchymalGene Expression ProfilingGenome-Wide Association StudyHumansIn Situ Hybridization, FluorescenceInterphaseMutant Chimeric Proteins5' Untranslated RegionsBasic Helix-Loop-Helix ProteinsBiomarkers, TumorCell Cycle ProteinsHEY1 protein, humanMutant Chimeric ProteinsNCOA2 protein, humanNuclear Receptor Coactivator 2

Identifiers

PMID22034177
PMCPMC3235801
OpenAlexW2022954552

What OpenQuestion holds

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LicenceTDM
Read underepoch 390

Registered trials

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.