Evidence map›Paper›PMID 32393201›Full record

ArticleBMC medical genetics2020

Recurrent secondary genomic alterations in desmoplastic small round cell tumors.

Warren A Chow, Jiing-Kuan Yee, Walter Tsark, Xiwei Wu, Hanjun Qin, Min Guan, Jeffrey S Ross, Siraj M Ali, Sherri Z Millis

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.0field-weighted citation impact, top 11% 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

15 citing papers in PubMed, 24 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Article
  6. HER2 Antibody-Drug Conjugates Are Active against Desmoplastic Small Round Cell Tumor.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024
    Article
  7. Article
  8. Review
  9. Article
  10. Small round cell sarcomas.Nature reviews. Disease primers · 2022
    Review
  11. Article
  12. The clear cell sarcoma functional genomic landscape.The Journal of clinical investigation · 2021
    Article
  13. Article
  14. Review
  15. 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 4 institutions in 1 country.

Warren A ChowDepartment of Medical Oncology & Therapeutics Research, City of Hope, 1500 E. Duarte Rd, Duarte, CA, 91010, USA. wchow@coh.org.ORCID 0000-0003-0889-5841
Jiing-Kuan YeeDepartment of Translational Research & Cellular Therapeutics, City of Hope, Duarte, CA, USA.
Walter TsarkCenter for Comparative Medicine, City of Hope, Duarte, CA, USA.
Xiwei WuIntegrative Genomics Core of Beckman Research Institute, City of Hope, Duarte, CA, USA.
Hanjun QinIntegrative Genomics Core of Beckman Research Institute, City of Hope, Duarte, CA, USA.
Min GuanDepartment of Medical Oncology & Therapeutics Research, City of Hope, 1500 E. Duarte Rd, Duarte, CA, 91010, USA.
Jeffrey S RossFoundation Medicine, Inc, Cambridge, MA, USA.
Siraj M AliFoundation Medicine, Inc, Cambridge, MA, USA.
Sherri Z MillisFoundation Medicine, Inc, Cambridge, MA, USA.
City of Hope · USFoundation Medicine (United States)City Of Hope National Medical Center · USSUNY Upstate Medical University · US

Funding

Transgenic Mouse FacilityP30CA033572 · NCI · CITY OF HOPE/BECKMAN RESEARCH INSTITUTE · PI STANLEY R. HAMILTON · 1985 to 2026
$86.3M
NCI NIH HHS P30 CA033572
6 · The paper itself

Abstract

backgroundDesmoplastic small round cell tumor (DSRCT) is a rare, highly aggressive, translocation-associated soft-tissue sarcoma that primarily affects children, adolescents, and young adults, with a striking male predominance. It is characterized by t(11;22) generating a novel EWSR1-WT1 fusion gene. Secondary genomic alterations are rarely described.

methodsTumor tissue from 83 DSRCT patients was assayed by hybrid-capture based comprehensive genomic profiling, FoundationOne® Heme next generation sequencing analysis of 406 genes and RNA sequencing of 265 genes. Tumor mutation burden was calculated from a minimum of 1.4 Mb sequenced DNA. Microsatellite instability status was determined by a novel algorithm analyzing 114 specific loci.

resultsComprehensive genomic profiling identified several genomically-defined DSRCT subgroups. Recurrent genomic alterations were most frequently detected in FGFR4, ARID1A, TP53, MSH3, and MLL3 genes. With the exception of FGFR4, where the genomic alterations predicted activation, most of the alterations in the remaining genes predicted gene inactivation. No DSRCT were TMB or MSI high.

conclusionsIn summary, recurrent secondary somatic alterations in FGFR4, ARID1A, TP53, MSH3, and MLL3 were detected in 82% of DSRCT, which is significantly greater than previously reported. These alterations may have both prognostic and therapeutic implications.

Indexed as

AdolescentAdultAgedBiomarkers, TumorChildChromosome AberrationsDesmoplastic Small Round Cell TumorDNA-Binding ProteinsFemaleGenome, HumanHumansMaleMiddle AgedMutS Homolog 3 ProteinNeoplasm Recurrence, LocalOncogene Proteins, FusionARID1A protein, humanBiomarkers, TumorDNA-Binding ProteinsEWSR1 protein, humanFGFR4 protein, humanKMT2C protein, humanMSH3 protein, humanMutS Homolog 3 ProteinOncogene Proteins, FusionReceptor, Fibroblast Growth Factor, Type 4RNA-Binding Protein EWSTP53 protein, humanTranscription FactorsTumor Suppressor Protein p53WT1 protein, humanWT1 ProteinsDesmoplastic small round cell tumorFGFR4Genomic profilingSarcoma

Identifiers

PMID32393201
PMCPMC7216377
OpenAlexW3028287179

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.