Evidence map›Paper›PMID 37870438›Full record

ArticleMolecular cancer research : MCR2024

Impact of Rare and Multiple Concurrent Gene Fusions on Diagnostic DNA Methylation Classifier in Brain Tumors.

Kristyn Galbraith, Jonathan Serrano, Guomiao Shen, Ivy Tran, Cheyanne C Slocum, Courtney Ketchum, Zied Abdullaev, Rust Turakulov, Tejus Bale, Marc Ladanyi and 18 more

Open access · greenAbstract read
In one paragraph

Article in Molecular cancer research : MCR, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.9field-weighted citation impact, top 24% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

  1. FGFR1 fusions in genomically and epigenetically bona fide glioblastoma, IDH-wildtype.Journal of neuropathology and experimental neurology · 2026
    Article
  2. Article
  3. Review
  4. 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

28 authors at 6 institutions in 2 countries.

Kristyn GalbraithDepartment of Pathology, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0002-5660-866X
Jonathan SerranoDepartment of Pathology, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0002-2839-9573
Guomiao ShenDepartment of Pathology, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0009-0000-1473-672X
Ivy TranDepartment of Pathology, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0003-4300-7379
Cheyanne C SlocumDepartment of Pathology & Laboratory Medicine, Weill Cornell Medical College - New York Presbyterian Hospital, New York, New York.ORCID 0009-0000-8612-9363
Courtney KetchumDepartment of Pathology & Laboratory Medicine, National Institutes of Health, Bethesda, Maryland.ORCID 0000-0002-9573-0799
Zied AbdullaevDepartment of Pathology & Laboratory Medicine, National Institutes of Health, Bethesda, Maryland.ORCID 0000-0001-6345-2088
Rust TurakulovDepartment of Pathology & Laboratory Medicine, National Institutes of Health, Bethesda, Maryland.ORCID 0009-0007-2086-9853
Tejus BaleDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.ORCID 0000-0003-3641-9287
Marc LadanyiDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.ORCID 0000-0001-9055-7213
Purvil SukhadiaDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.ORCID 0000-0002-6079-0871
Michael ZaidinskiDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.ORCID 0009-0003-8288-7687
Kerry MullaneyDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.ORCID 0009-0002-3308-1727
Sara DiNapoliDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.ORCID 0009-0005-4099-1034
Benjamin L LiechtyDepartment of Pathology & Laboratory Medicine, Weill Cornell Medical College - New York Presbyterian Hospital, New York, New York.ORCID 0000-0001-6485-5604
Marissa BarbaroDepartment of Neuro-oncology, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0001-5436-2371
Jeffrey C AllenDepartment of Pediatrics, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0001-9957-6664
Sharon L GardnerDepartment of Pediatrics, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0002-8857-5487
Jeffrey WisoffDepartment of Neurosurgery, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0003-3303-2220
David HarterDepartment of Neurosurgery, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0003-1417-6595
Eveline Teresa HidalgoDepartment of Neurosurgery, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0002-0053-8658
John G GolfinosDepartment of Neurosurgery, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0003-4221-0180
Daniel A OrringerDepartment of Neurosurgery, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0001-6427-8376
Kenneth AldapeDepartment of Pathology & Laboratory Medicine, National Institutes of Health, Bethesda, Maryland.ORCID 0000-0001-5119-7550
Jamal BenhamidaDepartment of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.ORCID 0000-0001-5542-9857
Kazimierz O WrzeszczynskiDepartment of Pathology, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0001-6743-6149
George JourDepartment of Pathology, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0001-8916-8966
Matija SnuderlDepartment of Pathology, NYU Langone Health and NYU Grossman School of Medicine, New York, New York.ORCID 0000-0003-0752-0917
NYU Langone Health · USMemorial Sloan Kettering Cancer Center · USNational Institutes of Health · USTumaini University · TZCornell University · USNew York University · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4M
Vaccine FacilityP30CA016087 · NCI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI ANIRBAN MAITRA · 1985 to 2026
$83.1M
Clinical Translation of Stimulated Raman HistologyR01CA226527 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ORRINGER, DANIEL · 2018 to 2025
$4.4M
Inducing Neural Maturation in Medulloblastoma by Targeting EZH2R01NS122987 · NINDS · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI RAJU, PRAVEEN B., SNUDERL, MATIJA · 2022 to 2025
$2.8M
NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016087NCI NIH HHS R01 CA226527NINDS NIH HHS R01 NS122987
6 · The paper itself

Abstract

DNA methylation is an essential molecular assay for central nervous system (CNS) tumor diagnostics. While some fusions define specific brain tumors, others occur across many different diagnoses. We performed a retrospective analysis of 219 primary CNS tumors with whole genome DNA methylation and RNA next-generation sequencing. DNA methylation profiling results were compared with RNAseq detected gene fusions. We detected 105 rare fusions involving 31 driver genes, including 23 fusions previously not implicated in brain tumors. In addition, we identified 6 multi-fusion tumors. Rare fusions and multi-fusion events can impact the diagnostic accuracy of DNA methylation by decreasing confidence in the result, such as BRAF, RAF, or FGFR1 fusions, or result in a complete mismatch, such as NTRK, EWSR1, FGFR, and ALK fusions. IMPLICATIONS: DNA methylation signatures need to be interpreted in the context of pathology and discordant results warrant testing for novel and rare gene fusions.

Indexed as

Brain NeoplasmsDNA MethylationGene FusionHumansOncogene Proteins, FusionRetrospective StudiesOncogene Proteins, Fusion

Identifiers

PMID37870438
PMCPMC10942665
OpenAlexW4387866385

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.