Evidence map›Paper›PMID 31104347›Full record

ArticleBrain pathology (Zurich, Switzerland)2020

High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis.

Sean P Ferris, Jose Velazquez Vega, Mariam Aboian, Julieann C Lee, Jessica Van Ziffle, Courtney Onodera, James P Grenert, Tara Saunders, Yunn-Yi Chen, Anu Banerjee and 17 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain pathology (Zurich, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
46citing papers in PubMed, 3 pooled it
–field-weighted citation impact
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

46 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Guideline
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Review
  16. Article
  17. Review
  18. Article
  19. Article
  20. Review
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

27 authors.

Sean P FerrisDepartment of Pathology, University of California, San Francisco, CA.
Jose Velazquez VegaDepartment of Pathology, Children's Healthcare of Atlanta, Atlanta, GA.
Mariam AboianDepartment of Radiology and Biomedical Imaging, University of California, San Francisco, CA.
Julieann C LeeDepartment of Pathology, University of California, San Francisco, CA.ORCID 0000-0003-0138-4862
Jessica Van ZiffleDepartment of Pathology, University of California, San Francisco, CA.
Courtney OnoderaDepartment of Pathology, University of California, San Francisco, CA.
James P GrenertDepartment of Pathology, University of California, San Francisco, CA.
Tara SaundersDepartment of Pathology, University of California, San Francisco, CA.
Yunn-Yi ChenDepartment of Pathology, University of California, San Francisco, CA.
Anu BanerjeeDivision of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA.
Cassie N KlineDivision of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA.
Nalin GuptaDepartment of Neurological Surgery, University of California, San Francisco, CA.
Corey RaffelDepartment of Neurological Surgery, University of California, San Francisco, CA.
David SamuelDepartment of Hematology-Oncology, Valley Children's Hospital, Madera, CA.
Irune Ruiz-DiazDepartment of Pathology, Hospital Universitario Donostia, Gipuzkoa, Spain.
Shino MagakiDepartment of Pathology and Human Anatomy, Loma Linda University Medical Center, Loma Linda, CA.
Dianne WilsonDepartment of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY.
Janna NeltnerDepartment of Pathology and Laboratory Medicine, University of Kentucky, Lexington, KY.
Zahra Al-HajriDepartment of Histopathology, Khoula Hospital, Muscat, Sultanate of Oman.
Joanna J PhillipsDepartment of Pathology, University of California, San Francisco, CA.ORCID 0000-0002-3789-8120
Melike PekmezciDepartment of Pathology, University of California, San Francisco, CA.
Andrew W BollenDepartment of Pathology, University of California, San Francisco, CA.
Tarik TihanDepartment of Pathology, University of California, San Francisco, CA.
Matthew SchniederjanDepartment of Pathology, Children's Healthcare of Atlanta, Atlanta, GA.
Soonmee ChaDepartment of Radiology and Biomedical Imaging, University of California, San Francisco, CA.
Arie PerryDepartment of Pathology, University of California, San Francisco, CA.
David A SolomonDepartment of Pathology, University of California, San Francisco, CA.ORCID 0000-0003-4571-7999

Funding

Tissue CoreP50CA097257 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Joseph F Costello · 2002 to 2026
$57.4M
Research Training in Childhood CancerT32CA128583 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Eric Alejandro Sweet-Cordero · 2007 to 2026
$6.0M
Cohesin gene mutations in tumorigenesisDP5OD021403 · OD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SOLOMON, DAVID A. · 2015 to 2019
$2.0M
NCI NIH HHS P50 CA097257NCI NIH HHS T32 CA128583NIH HHS DP5 OD021403
6 · The paper itself

Abstract

High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication (HGNET BCOR ex15 ITD) is a recently proposed tumor entity of the central nervous system (CNS) with a distinct methylation profile and characteristic genetic alteration. The complete spectrum of histologic features, accompanying genetic alterations, clinical outcomes, and optimal treatment for this new tumor entity are largely unknown. Here, we performed a comprehensive assessment of 10 new cases of HGNET BCOR ex15 ITD. The tumors mostly occurred in young children and were located in the cerebral or cerebellar hemispheres. On imaging all tumors were large, well-circumscribed, heterogeneous masses with variable enhancement and reduced diffusion. They were histologically characterized by predominantly solid growth, glioma-like fibrillarity, perivascular pseudorosettes, and palisading necrosis, but absence of microvascular proliferation. They demonstrated sparse to absent GFAP expression, no synaptophysin expression, variable OLIG2 and NeuN positivity, and diffuse strong BCOR nuclear positivity. While BCOR exon 15 internal tandem duplication was the solitary pathogenic alteration identified in six cases, four cases contained additional alterations including CDKN2A/B homozygous deletion, TERT amplification or promoter hotspot mutation, and damaging mutations in TP53, BCORL1, EP300, SMARCA2 and STAG2. While the limited clinical follow-up in prior reports had indicated a uniformly dismal prognosis for this tumor entity, this cohort includes multiple long-term survivors. Our study further supports inclusion of HGNET BCOR ex15 ITD as a distinct CNS tumor entity and expands the known clinicopathologic, radiographic, and genetic features.

Indexed as

AdolescentBiomarkers, TumorBrain NeoplasmsCentral Nervous System NeoplasmsChildChild, PreschoolCyclin-Dependent Kinase Inhibitor p16E1A-Associated p300 ProteinExonsFemaleGenomicsGliomaHumansInfantKaplan-Meier EstimateMaleBCOR protein, humanBiomarkers, TumorCDKN2A protein, humanCyclin-Dependent Kinase Inhibitor p16E1A-Associated p300 ProteinEP300 protein, humanOLIG2 protein, humanOligodendrocyte Transcription Factor 2Proto-Oncogene ProteinsRepressor ProteinsSMARCA2 protein, humanTelomeraseTERT protein, humanTranscription FactorsBCOR exon 15 internal tandem duplicationbrain tumorHGNEThigh-grade neuroepithelial tumormolecular neuro-oncologymolecular neuropathology

Identifiers

PMID31104347
PMCPMC6859193

What OpenQuestion holds

Textmetadata
LicenceTDM
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.