Evidence map›Paper›PMID 32859279›Full record

ArticleActa neuropathologica communications2020

Comprehensive analysis of diverse low-grade neuroepithelial tumors with FGFR1 alterations reveals a distinct molecular signature of rosette-forming glioneuronal tumor.

Calixto-Hope G Lucas, Rohit Gupta, Pamela Doo, Julieann C Lee, Cathryn R Cadwell, Biswarathan Ramani, Jeffrey W Hofmann, Emily A Sloan, Bette K Kleinschmidt-DeMasters, Han S Lee and 41 more

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

Article in Acta neuropathologica communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.

0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed
3.5field-weighted citation impact, top 5% 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

41 citing papers in PubMed, 66 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. H3 K27M mutation in rosette-forming glioneuronal tumors: a potential diagnostic pitfall.Virchows Archiv : an international journal of pathology · 2025
    Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Paediatric low-grade glioma: the role of classical pathology in integrated diagnostic practice.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024
    Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. A novel intronic circular RNA circFGFR1Journal of translational medicine · 2023
    Article
  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

51 authors at 12 institutions in 1 country.

Calixto-Hope G LucasDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Rohit GuptaDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Pamela DooInstitute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.
Julieann C LeeDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Cathryn R CadwellDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Biswarathan RamaniDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Jeffrey W HofmannDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Emily A SloanDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Bette K Kleinschmidt-DeMastersDepartments of Pathology, Neurology, and Neurosurgery, University of Colorado, Aurora, CO, USA.
Han S LeeDepartment of Pathology, Sutter Medical Center, Sacramento, CA, USA.
Matthew D WoodDepartment of Pathology, Oregon Health & Science University, Portland, OR, USA.
Marjorie GrafeDepartment of Pathology, Oregon Health & Science University, Portland, OR, USA.
Donald BornDivision of Neuropathology, Department of Pathology, Stanford University, Palo Alto, CA, USA.
Hannes VogelDivision of Neuropathology, Department of Pathology, Stanford University, Palo Alto, CA, USA.
Shahriar SalamatDepartment of Anatomic Pathology, University of Wisconsin-Madison, Madison, WI, USA.
Diane PuccettiDivision of Hematology, Oncology, and Bone Marrow Transplant, Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USA.
David ScharnhorstDepartment of Pathology, Valley Children's Hospital, Madera, CA, USA.
David SamuelDepartment of Hematology/Oncology, Valley Children's Hospital, Madera, CA, USA.
Tabitha CooneyDepartment of Pediatric Oncology, Dana Farber Cancer Institute, Boston, MA, USA.
Elaine ChamDepartment of Pathology, UCSF Benioff Children's Hospital Oakland, Oakland, CA, USA.
Lee-Way JinDepartment of Pathology, University of California, Davis, Sacramento, CA, USA.
Ziad KhatibDivision of Pediatric Hematology/Oncology, Department of Pediatrics, Nicklaus Children's Hospital, Miami, FL, USA.
Ossama MaherDivision of Pediatric Hematology/Oncology, Department of Pediatrics, Nicklaus Children's Hospital, Miami, FL, USA.
Gabriel ChamyanDepartment of Pathology, Nicklaus Children's Hospital, Miami, FL, USA.
Carole BrathwaiteDepartment of Pathology, Nicklaus Children's Hospital, Miami, FL, USA.
Serguei BannykhDepartment of Pathology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Sabine MuellerDivision of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Cassie N KlineDivision of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Anu BanerjeeDivision of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Alyssa ReddyDivision of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.
Jennie W TaylorDepartment of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Jennifer L ClarkeDepartment of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Nancy Ann Oberheim BushDepartment of Neurology, University of California, San Francisco, San Francisco, CA, USA.
Nicholas ButowskiDivision of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Nalin GuptaDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Kurtis I AugusteDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Peter P SunDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Jarod L RolandDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Corey RaffelDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Manish K AghiDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Philip TheodosopoulosDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Edward ChangDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Shawn Hervey-JumperDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Joanna J PhillipsDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Melike PekmezciDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Andrew W BollenDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Tarik TihanDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
Susan ChangDivision of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Mitchel S BergerDepartment of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA.
Arie PerryDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA.
David A SolomonDivision of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Avenue, Health Sciences West 451, San Francisco, CA, 94143, USA. david.solomon@ucsf.edu.ORCID 0000-0003-4571-7999
University of California, San Francisco · USMiami Children's Hospital · USChildren's Hospital Central California · USOregon Health & Science University · USStanford University · USUniversity of Wisconsin–Madison · USCedars-Sinai Medical Center · USDana-Farber Cancer Institute · USSutter Medical Center · USUCSF Benioff Children's Hospital · USUniversity of California, Davis · USUniversity of Colorado Anschutz Medical Campus · US

Funding

Tissue CoreP50CA097257 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Susan M Chang · 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
Tumor cell and microenvironment changes causing antiangiogenic therapy resistanceR01NS079697 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AGHI, MANISH · 2013 to 2021
$3.2M
Modeling and druggable-genome screening of glioblastoma invasion using regional biopsy-guided biomaterials systemsR01CA227136 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI AGHI, MANISH · 2018 to 2022
$2.2M
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 R01 CA227136NCI NIH HHS T32 CA128583NIH HHS DP5 OD021403NINDS NIH HHS R01 NS079697
6 · The paper itself

Abstract

The FGFR1 gene encoding fibroblast growth factor receptor 1 has emerged as a frequently altered oncogene in the pathogenesis of multiple low-grade neuroepithelial tumor (LGNET) subtypes including pilocytic astrocytoma, dysembryoplastic neuroepithelial tumor (DNT), rosette-forming glioneuronal tumor (RGNT), and extraventricular neurocytoma (EVN). These activating FGFR1 alterations in LGNET can include tandem duplication of the exons encoding the intracellular tyrosine kinase domain, in-frame gene fusions most often with TACC1 as the partner, or hotspot missense mutations within the tyrosine kinase domain (either at p.N546 or p.K656). However, the specificity of these different FGFR1 events for the various LGNET subtypes and accompanying genetic alterations are not well defined. Here we performed comprehensive genomic and epigenomic characterization on a diverse cohort of 30 LGNET with FGFR1 alterations. We identified that RGNT harbors a distinct epigenetic signature compared to other LGNET with FGFR1 alterations, and is uniquely characterized by FGFR1 kinase domain hotspot missense mutations in combination with either PIK3CA or PIK3R1 mutation, often with accompanying NF1 or PTPN11 mutation. In contrast, EVN harbors its own distinct epigenetic signature and is characterized by FGFR1-TACC1 fusion as the solitary pathogenic alteration. Additionally, DNT and pilocytic astrocytoma are characterized by either kinase domain tandem duplication or hotspot missense mutations, occasionally with accompanying NF1 or PTPN11 mutation, but lacking the accompanying PIK3CA or PIK3R1 mutation that characterizes RGNT. The glial component of LGNET with FGFR1 alterations typically has a predominantly oligodendroglial morphology, and many of the pilocytic astrocytomas with FGFR1 alterations lack the biphasic pattern, piloid processes, and Rosenthal fibers that characterize pilocytic astrocytomas with BRAF mutation or fusion. Together, this analysis improves the classification and histopathologic stratification of LGNET with FGFR1 alterations.

Indexed as

AdolescentAdultAgedBrain NeoplasmsChildFemaleHumansMaleMiddle AgedMutationNeoplasms, NeuroepithelialReceptor, Fibroblast Growth Factor, Type 1Spinal Cord NeoplasmsYoung AdultFGFR1 protein, humanReceptor, Fibroblast Growth Factor, Type 1DNA methylation profilingDysembryoplastic neuroepithelial tumor (DNT)Extraventricular neurocytoma (EVN)FGFR1Molecular neuropathologyPIK3CAPIK3R1Pilocytic astrocytomaRosette-forming glioneuronal tumor (RGNT)

Identifiers

PMID32859279
PMCPMC7456392
OpenAlexW3082534477

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Registered trials

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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.