ArticleNature medicine2019
The molecular landscape of glioma in patients with Neurofibromatosis 1.
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Article in Nature medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 134 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
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134citing papers in PubMed, 1 pooled it
16.0field-weighted citation impact, top 1% of its field
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Who cites it
134 citing papers in PubMed, 1 synthesis or guideline pooled it, 207 citations in OpenAlex.
- Tracing the origins of glioblastoma by investigating the role of gliogenic and related neurogenic genes/signaling pathways in GBM development: a systematic review.World journal of surgical oncology · 2022Pooled it
- Pediatric high-grade gliomas and cancer predisposition syndromes: A retrospective study.HGG advances · 2026Article
- IDH1-R132H enhances oncolytic HSV-1 therapy by facilitating viral entry and immune activation in glioma.Nature communications · 2026Article
- Large-Scale Assessment ofbioRxiv : the preprint server for biology · 2026Article
- Immune landscape characterization of neurofibromas with atypical features in Neurofibromatosis1 reveals PD-1 and the Tim-3/Galectin-9 pathway as potential therapeutic targets.Acta neuropathologica communications · 2026Article
- Precision diagnosis and therapy for pediatric central nervous system tumors: consensus from the Brazilian Society of Pediatric Oncology (SOBOPE).Lancet regional health. Americas · 2026Review
- Cutibacterium acnes-Derived Extracellular Vesicles Promote Epithelial Ovarian Cancer Progression by Activating the KEAP1-NRF2 Antioxidant Pathway to Suppress Ferroptosis.Microbial biotechnology · 2026Article
- Targeted therapies in adolescent and young adult patients with central nervous system tumors.Neuro-oncology advances · 2026Review
- MEK inhibitors for neurofibromatosis type 1-associated central and peripheral nervous system tumors.Neuro-oncology advances · 2026Review
- Review
- A PIK3CA and NF1 expression-based prognostic signature derived from Mendelian randomization identifies causal immune-regulatory determinants of glioblastoma outcomes.Discover oncology · 2026Article
- Radiotherapy for low grade gliomas in children with neurofibromatosis type 1: when there is no other choice. Case Report.Frontiers in oncology · 2026Article
- Restraint of cancer cell plasticity by spatial homotypic clustering.Cancer cell · 2025Article
- Adult spinal cord diffuse midline gliomas with piloid features have a better prognosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Antitumor Effect of Selumetinib for Brainstem Glioma in an Adult With NF1: A Case Report.Neurosurgery practice · 2025Article
- Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.Nature communications · 2025Article
- Cut the fat: targeting cholesterol and lipid metabolism in glioblastoma.Cell death & disease · 2025Review
- Natural history of SPP1 signaling in NF1 tumors.NPJ precision oncology · 2025Article
- Metastatic Low-Grade Glioma Successfully Treated in a Pediatric Patient With BRAF A598_T599insI Mutation.Cancer reports (Hoboken, N.J.) · 2025Article
- Intestinal Bacteroides drives glioma progression by regulating CD8+ T cell tumor infiltration.Neuro-oncology · 2025Article
74 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
47 authors at 20 institutions in 7 countries.
Fulvio D'Angelo *Institute for Cancer Genetics, Columbia University Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0002-4940-4693
Michele Ceccarelli *BIOGEM Istituto di Ricerche Genetiche 'G. Salvatore', Ariano Irpino, Italy.ORCID http://orcid.org/0000-0002-4702-6617
TalaInstitute for Cancer Genetics, Columbia University Medical Center, New York, NY, USA.
Luciano GarofanoInstitute for Cancer Genetics, Columbia University Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-8582-0865
Jing ZhangInstitute for Cancer Genetics, Columbia University Medical Center, New York, NY, USA.ORCID http://orcid.org/0000-0001-8549-3286
Véronique FrattiniInstitute for Cancer Genetics, Columbia University Medical Center, New York, NY, USA.
Francesca P CarusoBIOGEM Istituto di Ricerche Genetiche 'G. Salvatore', Ariano Irpino, Italy.
Genevieve LewisInstitute for Cancer Genetics, Columbia University Medical Center, New York, NY, USA.
Kristin D AlfaroThe University of Texas M.D. Anderson Cancer Center John Mendelsohn Faculty Center (FC7.3025) - Neuro-Oncology - Unit 0431, Houston, TX, USA.
Luc BauchetDepartment of Neurosurgery, Gui de Chauliac Hospital, Montpellier University Medical Center, Montpellier, France.
Giulia BerzeroSorbonne Universités UPMC Université Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, APHP, Paris, France.
David CachiaDepartment of Neuro-Oncology, Medical University of South Carolina, Charleston, SC, USA.
Mario CangianoBIOGEM Istituto di Ricerche Genetiche 'G. Salvatore', Ariano Irpino, Italy.
Laurent CapelleAP-HP, Hôpital de la Pitié-Salpêtrière, Service de Neurochirurgie, Paris, France.
John de GrootThe University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.
Francesco DiMecoDepartment of Neurological Surgery, Carlo Besta Neurological Institute, Milan, Italy.
François DucrayService de Neuro-Oncologie, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Department of Cancer Cell Plasticity, Cancer Research Center of Lyon, INSERM U1052, CNRS UMR5286, Lyon, France.
Walid FarahDepartment of Neurosurgery, CHU, Dijon, France.
Gaetano FinocchiaroUnit of Molecular Neuro-Oncology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.ORCID http://orcid.org/0000-0003-3583-4040
Stéphane GoutagnyService de Neurochirurgie, Hôpital Beaujon, Assistance Publique-Hôpitaux de Paris, Clichy, France.
Carlos Kamiya-MatsuokaThe University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.
Cinzia LavarinoDevelopmental Tumor Laboratory, Fundación Sant Joan de Déu, Barcelona, Spain.
Hugues LoiseauDepartment of Neurosurgery, Bordeaux University Hospital. Labex TRAIL (ANR-10-LABX-57). EA 7435 - IMOTION Bordeaux University, Bordeaux, France.
Véronique LorgisDepartment of Medical Oncology, Centre GF Leclerc, Dijon, France.
Carlo E MarrasPediatric Neurosurgery Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, Rome, Italy.
Ian McCutcheonThe University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.ORCID http://orcid.org/0000-0002-1638-3400
Do-Hyun NamDepartment of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Susanna RonchiSorbonne Universités UPMC Université Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, APHP, Paris, France.
Veronica SalettiDevelopmental Neurology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
Romuald SeizeurService de Neurochirurgie, Hôpital de la Cavale Blanche, CHRU de Brest, Université de Brest, Brest, France.
John SlopisThe University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.
Mariona SuñolDepartment of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain.
Fanny VandenbosCentral Laboratory of Pathology, Pasteur I University Hospital, Nice, France.
Pascale VarletDepartment of Neuropathology, Sainte-Anne Hospital, Paris, France.
Dominique VidaudEA7331, Université Paris Descartes, France; Service de Génétique et Biologie Moléculaires, Hôpital Cochin, AP-HP, Paris, France.
Colin WattsInstitute of Cancer and Genomic Sciences University of Birmingham Edgbaston, Birmingham, United Kingdom.
Viviane TabarDepartment of Neurosurgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
David E ReussClinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Seung-Ki KimDivision of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
David MeyronetCentre de Pathologie Et Neuropathologie Est Hospices Civils de Lyon, Lyon, France.
Karima MokhtariSorbonne Universités UPMC Université Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, APHP, Paris, France.
Hector SalvadorPediatric Oncology Unit, Hospital Sant Joan de Déu, Esplugues, Barcelona, Spain.ORCID http://orcid.org/0000-0002-2515-0019
Krishna P BhatThe University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.
Marica EoliUnit of Molecular Neuro-Oncology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
Marc SansonSorbonne Universités UPMC Université Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, APHP, Paris, France.
Anna LasorellaInstitute for Cancer Genetics, Columbia University Medical Center, New York, NY, USA. al2179@cumc.columbia.edu.ORCID http://orcid.org/0000-0002-1839-5421
Antonio IavaroneInstitute for Cancer Genetics, Columbia University Medical Center, New York, NY, USA. ai2102@cumc.columbia.edu.ORCID http://orcid.org/0000-0002-0683-4634
Columbia University Irving Medical Center · USThe University of Texas MD Anderson Cancer Center · USCentre National de la Recherche Scientifique · FRFondazione IRCCS Istituto Neurologico Carlo Besta · ITHospital Sant Joan de Déu Barcelona · ESUniversity of Sannio · ITBambino Gesù Children's Hospital · ITBiogem · ITCentre Georges François Leclerc · FRCHU Dijon Bourgogne · FRDélégation Paris 5 · FRGerman Cancer Research Center · DEHôpital Beaujon · FRHôpital Pasteur · FRHospices Civils de Lyon · FRInserm · FRMedical University of South Carolina · USMemorial Sloan Kettering Cancer Center · USSamsung Medical Center · KRSant Joan de Déu Research Foundation · ES
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI SELWYN M VICKERS · 1985 to 2026
$347.4MTumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI DIANE BODURKA · 1985 to 2026
$290.8MTopology of Cancer Evolution and HeterogeneityU54CA193313 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IAVARONE, ANTONIO, RABADAN, RAUL · 2015 to 2020
$10.4MID2 IN CELL CYCLE REGULATION AND CANCERR01CA085628 · NCI · YESHIVA UNIVERSITY · PI IAVARONE, ANTONIO · 2000 to 2010
$3.8MThe role of Id proteins in tumor development and angiogenesis in the brainR01CA101644 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LASORELLA, ANNA · 2003 to 2013
$3.5MComputational analysis of Human High Grade GliomasR01NS061776 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IAVARONE, ANTONIO · 2009 to 2013
$2.4MIdentification and modeling of driver genetic modules in glioblastomaR01CA179044 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IAVARONE, ANTONIO, RABADAN, RAUL · 2014 to 2018
$2.3MThe role of the LZTR1 ubiquitin ligase in stem cells and cancerR01CA190891 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IAVARONE, ANTONIO · 2015 to 2019
$1.9MThe mechanisms driving brain oncogenesis by FGFR-TACC gene fusionsR01CA178546 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IAVARONE, ANTONIO · 2014 to 2018
$1.8MMechanisms of ID2 regulation in gliomaR01CA239721 · NCI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI LASORELLA, ANNA · 2019 to 2023
$1.8MMechanisms and regulation of post-translational modifications of Id proteinsR01CA127643 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI IAVARONE, ANTONIO · 2008 to 2012
$1.7MThe Ureb-1 ubiquitin ligase in neural stem cells and cancerR01CA131126 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LASORELLA, ANNA · 2008 to 2012
$1.6MNCI NIH HHS P30 CA008748NCI NIH HHS P30 CA016672NCI NIH HHS R01 CA085628NCI NIH HHS R01 CA101644NCI NIH HHS R01 CA127643NCI NIH HHS R01 CA131126NCI NIH HHS R01 CA178546NCI NIH HHS R01 CA179044NCI NIH HHS R01 CA190891NCI NIH HHS R01 CA239698NCI NIH HHS R01 CA239721NCI NIH HHS U54 CA193313NINDS NIH HHS R01 NS061776
Abstract
Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome in which glioma is one of the prevalent tumors. Gliomagenesis in NF1 results in a heterogeneous spectrum of low- to high-grade neoplasms occurring during the entire lifespan of patients. The pattern of genetic and epigenetic alterations of glioma that develops in NF1 patients and the similarities with sporadic glioma remain unknown. Here, we present the molecular landscape of low- and high-grade gliomas in patients affected by NF1 (NF1-glioma). We found that the predisposing germline mutation of the NF1 gene was frequently converted to homozygosity and the somatic mutational load of NF1-glioma was influenced by age and grade. High-grade tumors harbored genetic alterations of TP53 and CDKN2A, frequent mutations of ATRX associated with Alternative Lengthening of Telomere, and were enriched in genetic alterations of transcription/chromatin regulation and PI3 kinase pathways. Low-grade tumors exhibited fewer mutations that were over-represented in genes of the MAP kinase pathway. Approximately 50% of low-grade NF1-gliomas displayed an immune signature, T lymphocyte infiltrates, and increased neo-antigen load. DNA methylation assigned NF1-glioma to LGm6, a poorly defined Isocitrate Dehydrogenase 1 wild-type subgroup enriched with ATRX mutations. Thus, the profiling of NF1-glioma defined a distinct landscape that recapitulates a subset of sporadic tumors.
Indexed as
AdolescentAdultAntigens, NeoplasmBrain NeoplasmsChildChild, PreschoolCohort StudiesDNA MethylationFemaleGerm-Line MutationGliomaHumansMaleMiddle AgedNeurofibromatosis 1Neurofibromin 1Antigens, NeoplasmATRX protein, humanNeurofibromin 1NF1 protein, humanX-linked Nuclear Protein
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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 Socratic graph.