Evidence map›Paper›PMID 22868000›Full record

ArticleCancer genetics

Molecular inversion probe analysis detects novel copy number alterations in Ewing sarcoma.

Mona S Jahromi, Angelica R Putnam, Colleen Druzgal, Jennifer Wright, Holly Spraker-Perlman, Michelle Kinsey, Holly Zhou, Kenneth M Boucher, R Lor Randall, Kevin B Jones and 5 more

Abstract read
In one paragraph

Article in Cancer genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
3.9field-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

22 citing papers in PubMed, 38 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Pediatric primary intracranial Ewing's sarcoma involving cavernous sinus: an untamed evil.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025
    Article
  5. Single-Cell RNA Sequencing of Ewing Sarcoma Tumors Demonstrates Transcriptional Heterogeneity and Clonal Evolution.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
    Article
  6. Article
  7. The clear cell sarcoma functional genomic landscape.The Journal of clinical investigation · 2021
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. The Many Roles of BAF (mSWI/SNF) and PBAF Complexes in Cancer.Cold Spring Harbor perspectives in medicine · 2016
    Review
  16. Article
  17. Article
  18. Review
  19. Article
  20. 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

15 authors at 5 institutions in 1 country.

Mona S JahromiCenter for Children's Cancer Research (C3R), Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.
Angelica R Putnam
Colleen Druzgal
Jennifer Wright
Holly Spraker-Perlman
Michelle Kinsey
Holly Zhou
Kenneth M Boucher
R Lor Randall
Kevin B Jones
David Lucas
Andrew Rosenberg
Dafydd Thomas
Stephen L Lessnick
Joshua D Schiffman
University of Utah · USHuntsman Cancer Institute · USUniversity of Michigan–Ann Arbor · USUniversity of Miami · USUniversity of Virginia · US

Funding

UTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 1986 to 2026
$72.6M
Genetic /Developmental Mechanisms of Pediatric DiseasesK12HD001410 · NICHD · UNIVERSITY OF UTAH · PI CLARK, EDWARD BOWERSOX · 2003 to 2012
$4.3M
EWS/FLI AND ITS TARGETS IN EWING'S SARCOMAR01CA140394 · NCI · UNIVERSITY OF UTAH · PI LESSNICK, STEPHEN L. · 2010 to 2014
$1.5M
Transposon-insertional Mutagenesis to Decipher OsteosarcomagenesisK08CA138764 · NCI · UNIVERSITY OF UTAH · PI JONES, KEVIN BRUCE · 2009 to 2013
$896k
Antibody-based detection of translocations in pediatric cancerR21CA138295 · NCI · UNIVERSITY OF UTAH · PI LESSNICK, STEPHEN L. · 2009 to 2011
$656k
NCI NIH HHS K08 CA138764NCI NIH HHS P30 CA042014NCI NIH HHS R01 CA140394NCI NIH HHS R21 CA138295NICHD NIH HHS 5K12HD001410NICHD NIH HHS K12 HD001410
6 · The paper itself

Abstract

Ewing sarcoma (ES) is the second most common bone tumor in children and young adults, with dismal outcomes for metastatic and relapsed disease. To better understand the molecular pathogenesis of ES and to identify new prognostic markers, we used molecular inversion probes (MIPs) to evaluate copy number alterations (CNAs) and loss of heterozygosity (LOH) in formalin-fixed paraffin-embedded (FFPE) samples, which included 40 ES primary tumors and 12 ES metastatic lesions. CNAs were correlated with clinical features and outcome, and validated by immunohistochemistry (IHC). We identified previously reported CNAs, in addition to SMARCB1 (INI1/SNF5) homozygous loss and copy neutral LOH. IHC confirmed SMARCB1 protein loss in 7-10% of clinically diagnosed ES tumors in three separate cohorts (University of Utah [N = 40], Children's Oncology Group [N = 31], and University of Michigan [N = 55]). A multifactor copy number (MCN)-index was highly predictive of overall survival (39% vs. 100%, P < 0.001). We also identified RELN gene deletions unique to 25% of ES metastatic samples. In summary, we identified both known and novel CNAs using MIP technology for the first time in FFPE samples from patients with ES. CNAs detected by microarray correlate with outcome and may be useful for risk stratification in future clinical trials.

Indexed as

Gene DosageMolecular ProbesAdolescentAdultBone NeoplasmsCell Adhesion Molecules, NeuronalChildChild, PreschoolChromosomal Proteins, Non-HistoneDNA-Binding ProteinsExtracellular Matrix ProteinsFemaleGene DeletionHumansImmunohistochemistryInfantCell Adhesion Molecules, NeuronalChromosomal Proteins, Non-HistoneDNA-Binding ProteinsExtracellular Matrix ProteinsMolecular ProbesNerve Tissue ProteinsReelin ProteinRELN protein, humanSerine EndopeptidasesSMARCB1 ProteinSMARCB1 protein, humanTranscription Factors

Identifiers

PMID22868000
PMCPMC3784316
OpenAlexW2089678016

What OpenQuestion holds

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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.