Evidence map›Paper›PMID 35945463›Full record

ArticleActa neuropathologica2022

Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Calixto-Hope G Lucas, Emily A Sloan, Rohit Gupta, Jasper Wu, Drew Pratt, Harish N Vasudevan, Ajay Ravindranathan, Jairo Barreto, Erik A Williams, Anny Shai and 32 more

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

Article in Acta neuropathologica, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.

0numbers the graph read from it
0cells of the map it votes in
39citing papers in PubMed
5.7field-weighted citation impact, top 3% 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

39 citing papers in PubMed, 49 citations in OpenAlex.

  1. Article
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  4. A Genomically Tailored Multiagent Precision Medicine Clinical Trial for Adults with Recurrent Glioblastoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2026
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  17. MEK Inhibition in Glioblastoma: Current Perspectives and Future Directions.International journal of molecular sciences · 2025
    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

42 authors at 8 institutions in 2 countries.

Calixto-Hope G LucasDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Emily A SloanDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Rohit GuptaDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Jasper WuDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Drew PrattLaboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Harish N VasudevanDepartment of Radiation Oncology, University of California San Francisco, San Francisco, CA, USA.
Ajay RavindranathanDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Jairo BarretoDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Erik A WilliamsDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Anny ShaiDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Nicholas S WhippleDivision of Pediatric Hematology/Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
Carol S BruggersDivision of Pediatric Hematology/Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.
Ossama MaherDepartment of Oncology, Nicklaus Children's Hospital, Miami, FL, USA.
Burt NaborsDivision of Neuro-Oncology, Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, USA.
Michael RodriguezDouglass Hanly Moir Pathology, Macquarie Park, Australia.
David SamuelDepartment of Hematology/Oncology, Valley Children's Hospital, Madera, CA, USA.
Melandee BrownDepartment of Neurosurgery, Valley Children's Hospital, Madera, CA, USA.
Jason CarmichaelDepartment of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA, USA.
Rufei LuDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Kanish MirchiaDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Daniel V SullivanDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Melike PekmezciDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Tarik TihanDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Andrew W BollenDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Arie PerryDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Anuradha BanerjeeDivision of Pediatric Hematology/Oncology, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Sabine MuellerDepartment 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.
Shawn L Hervey-JumperDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Nancy Ann Oberheim BushDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
Mariza DarasDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
Jennie W TaylorDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
Nicholas A ButowskiDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
John de GrootDepartment 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.
David R RaleighDepartment of Radiation Oncology, University of California San Francisco, San Francisco, CA, USA.
Joseph F CostelloDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Joanna J PhillipsDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.
Alyssa T ReddyDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Susan M ChangDepartment of Neurology, University of California San Francisco, San Francisco, CA, USA.
Mitchel S BergerDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
David A SolomonDepartment of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA. david.solomon@ucsf.edu.ORCID http://orcid.org/0000-0003-4571-7999
University of California, San Francisco · USChildren's Hospital Central California · USUniversity of Utah · USDouglass Hanly Moir Pathology · AUJohns Hopkins University · USMiami Children's Hospital · USNational Institutes of Health · USUniversity of Alabama at Birmingham · US

Funding

Tissue CoreP50CA097257 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Susan M Chang · 2002 to 2026
$57.4M
Training Program in Translational Brain Tumor ResearchT32CA151022 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Joseph F Costello · 2010 to 2026
$6.6M
Cohesin gene mutations in tumorigenesisDP5OD021403 · OD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SOLOMON, DAVID A. · 2015 to 2019
$2.0M
An informatics framework for single-cell multi-omics from clinical specimensR01LM013897 · NLM · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Aaron Antonio Diaz · 2022 to 2026
$1.8M
NCI NIH HHS P50 CA097257NCI NIH HHS T32 CA151022NIH HHS DP5 OD021403NLM NIH HHS R01 LM013897
6 · The paper itself

Abstract

Gliomas arising in the setting of neurofibromatosis type 1 (NF1) are heterogeneous, occurring from childhood through adulthood, can be histologically low-grade or high-grade, and follow an indolent or aggressive clinical course. Comprehensive profiling of genetic alterations beyond NF1 inactivation and epigenetic classification of these tumors remain limited. Through next-generation sequencing, copy number analysis, and DNA methylation profiling of gliomas from 47 NF1 patients, we identified 2 molecular subgroups of NF1-associated gliomas. The first harbored biallelic NF1 inactivation only, occurred primarily during childhood, followed a more indolent clinical course, and had a unique epigenetic signature for which we propose the terminology "pilocytic astrocytoma, arising in the setting of NF1". The second subgroup harbored additional oncogenic alterations including CDKN2A homozygous deletion and ATRX mutation, occurred primarily during adulthood, followed a more aggressive clinical course, and was epigenetically diverse, with most tumors aligning with either high-grade astrocytoma with piloid features or various subclasses of IDH-wildtype glioblastoma. Several patients were treated with small molecule MEK inhibitors that resulted in stable disease or tumor regression when used as a single agent, but only in the context of those tumors with NF1 inactivation lacking additional oncogenic alterations. Together, these findings highlight recurrently altered pathways in NF1-associated gliomas and help inform targeted therapeutic strategies for this patient population.

Indexed as

AstrocytomaBrain NeoplasmsGliomaNeurofibromatosis 1AdultHomozygoteHumansSequence DeletionAstrocytomaBrain tumorGliomaMolecular neuro-oncologyMolecular neuropathologyNeurofibromatosis type 1NF1SelumetinibTrametinib

Identifiers

PMID35945463
PMCPMC9468105
OpenAlexW4295507508

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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.