Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Acta Neuropathologica

• Publication date

  2009-04-02

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s00401-009-0528-xPMID 19340432
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• IDH1 and IDH2 mutations in gliomas.

  2009influential reference
• IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas.

  2009influential reference
• IDH1 mutations at residue p.R132 (IDH1R132) occur frequently in high‐grade gliomas but not in other solid tumors

  2009cited by this paper
• Analysis of the IDH1 codon 132 mutation in brain tumors

  2008influential reference
• An Integrated Genomic Analysis of Human Glioblastoma Multiforme

  2008cited by this paper
• The 2007 WHO Classification of Tumours of the Central Nervous System

  2007influential reference
• WHO classification of tumours of the central nervous system

  2007cited by this paper
• Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3

  2004cited by this paper
• Genetic Pathways to Glioblastoma

  2004cited by this paper
• Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype.

  2003cited by this paper
• Astrocytomas and Choroid Plexus Tumors in Two Families with Identical p53 Germline Mutations

  1998influential reference
• Tumors associated with p53 germline mutations: a synopsis of 91 families.

  1997cited by this paper
• Familial Brain Tumour Syndrome Associated with a p53 Germline Deletion of Codon 236

  1995cited by this paper
• Textbook of biochemistry: With clinical correlations

  1982cited by this paper

• Glioblastoma multiforme: insights into pathogenesis, key signaling pathways, and therapeutic strategies

  2025cites this paper
• Early Detection of Glioma: Investigating Inflammatory Markers (CRP), Kidney, and Liver Function.

  2025cites this paper
• Iron promotes isocitrate dehydrogenase mutant glioma cell motility.

  2024cites this paper
• Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases

  2024cites this paper
• Study of the Histological Features of the Stroma of High-Grade Gliomas Depending on the Status of the Mutation in the IDH1 Gene

  2024cites this paper
• Adolescents and Young Adults With Cancer: CNS Tumors.

  2023cites this paper
• Unraveling the signaling mechanism behind astrocytoma and possible therapeutics strategies: A comprehensive review

  2023cites this paper
• Relationship between IDH1/2 and TERT promoter mutation and the prognosis of human glioma patients

  2023cites this paper
• Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li–Fraumeni-like family

  2022cites this paper
• Genetic syndromes predisposing to pediatric brain tumors.

  2021cites this paper
• NMR Spectroscopy-Based Metabolomics of Platelets to Analyze Brain Tumors

  2021cites this paper
• GNG5 is a novel oncogene associated with cell migration, proliferation, and poor prognosis in glioma

  2021cites this paper
• Brain Cancers in Genetic Syndromes

  2021cites this paper
• IDH1/2 Mutations in Patients With Diffuse Gliomas: A Single Centre Retrospective Massively Parallel Sequencing Analysis

  2021cites this paper
• Histopathology of Adult and Pediatric Glioblastoma

  2021cites this paper
• Evaluation of the melting temperature of TaqMan probes as a genotyping method for IDH1, IDH2, and H3F3A in pediatric astrocytomas.

  2020cites this paper
• Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome

  2020cites this paper
• Characteristics of IDH-mutant gliomas with non-canonical IDH mutation

  2020cites this paper
• [Hereditary predisposition to tumors of the central and peripheral nervous systems].

  2020cites this paper
• Gliomas arising in the setting of Li-Fraumeni syndrome stratify into two molecular subgroups with divergent clinicopathologic features

  2020cites this paper
• Idh-1 Status and Venous Thromboembolism in Glioma Patients

  2019cites this paper
• Cancer-associated mutation and beyond: The emerging biology of isocitrate dehydrogenases in human disease

  2019cites this paper
• An update on the central nervous system manifestations of Li–Fraumeni syndrome

  2019cites this paper
• The role of Norrie Disease Pseudoglioma (NDP) signaling in glioblastoma

  2018influential citation
• Origin of Gliomas

  2018cites this paper
• Pediatric High Grade Gliomas in the Context of Cancer Predisposition Syndromes

  2018cites this paper
• CASP9 germline mutation in a family with multiple brain tumors

  2018cites this paper
• Isocitrate dehydrogenase 1 mutation subtypes at site 132 and their translational potential in glioma

  2018cites this paper
• Clinicopathologic changes and molecular finding of epithelioid pleomorphic xanthoastrocytoma: a case report.

  2018cites this paper
• The role of IDH 1 / 2 mutations in the pathogenesis of secondary glioblastomas

  2017cites this paper
• A PARP1 és p53 útvonal bioinformatikai és neuropatológiai vizsgálata gliomákban

  2017cites this paper
• Predicting IDH mutation status in grade II gliomas using amide proton transfer‐weighted (APTw) MRI

  2017cites this paper
• Isocitrate dehydrogenase mutations suppress STAT1 and CD8+ T cell accumulation in gliomas

  2017cites this paper
• Molecular Biology of Human Brain Tumors

  2017cites this paper
• Genomic analysis of the origins and evolution of multicentric diffuse lower-grade gliomas

  2017cites this paper
• Metabolic rewiring in response to genetic and environmental preturbations in cancer

  2017cites this paper
• Immunotherapy Clinical Trials in Neuro-Oncology

  2017cites this paper
• University of Birmingham Mitochondrial metabolic remodelling in response to genetic and environmental perturbations

  2016cites this paper
• Mitochondrial metabolic remodeling in response to genetic and environmental perturbations

  2016cites this paper
• The Journal of Clinical Investigation

  2016cites this paper
• A three-gene signature for prognosis in patients with MGMT promoter-methylated glioblastoma

  2016cites this paper
• IDH1/2 gene hotspot mutations in central nervous system tumours: analysis of 922 Chinese patients.

  2016cites this paper
• Shedding Light on the 2016 World Health Organization Classification of Tumors of the Central Nervous System in the Era of Radiomics and Radiogenomics.

  2016cites this paper
• Neuropathologische Untersuchungen an Gewebeproben vor und nach intraoperativem MRT bei malignen Gliomen.

  2015cites this paper
• Impending Impact of Molecular Pathology on Classifying Adult Diffuse Gliomas.

  2015cites this paper
• Diffusely infiltrating astrocytomas: pathology, molecular mechanisms and markers

  2015cites this paper
• A practical review of prognostic correlations of molecular biomarkers in glioblastoma.

  2015cites this paper
• Diagnostic, prognostic and predictive relevance of molecular markers in gliomas

  2015cites this paper
• Glioma

  2015cites this paper
• Cancer Predisposition in Children with Brain Tumors

  2015cites this paper
• TP53, MSH4, and LATS1 germline mutations in a family with clustering of nervous system tumors.

  2014cites this paper
• Li-Fraumeni syndrome: multiple distinct brain tumours in two brothers.

  2014cites this paper
• Isocitrate dehydrogenase status and molecular subclasses of glioma and glioblastoma.

  2014cites this paper
• IDH1 p.R132 mutations may not be actively involved in the carcinogenesis of hepatocellular carcinoma

  2014cites this paper
• IDH1 and IDH2 Mutations in Gliomas

  2013cites this paper
• What do we know about IDH1/2 mutations so far, and how do we use it?

  2013cites this paper
• The Distribution and Significance of IDH Mutations in Gliomas

  2013cites this paper
• Novel Hypothesis on Telomere Length: Heterogenic Targets as Genomic/Somatic Diverse Value in Breast Cancer and Brain Tumor

  2013cites this paper
• Decision making and management of gliomas: practical considerations.

  2012cites this paper
• Evidence of ambiguous differentiation and mTOR pathway dysregulation in subependymal giant cell astrocytoma.

  2012cites this paper
• Evidence of Ambiguous Differentiation and mTOR Pathway Dysregulation in Subependymal Giant Cell Astrocytoma Subependimal Dev Hücreli Astrositomlarda Belirgin Olmayan Farklilaşma ve mTOR Yolaği Bozukluklari

  2012cites this paper
• The Definition of Primary and Secondary Glioblastoma

  2012cites this paper
• Genetic Dissection of the Biological and Molecular Role of IDH1 Mutations in Glioma

  2012cites this paper
• IDH mutations in human glioma.

  2012cites this paper
• Role of isocitrate dehydrogenase in glioma

  2011cites this paper
• Identification and Functional Analysis of Genes Involved in Gliomagenesis

  2011cites this paper
• Malignant Glioma: Isocitrate Dehydrogenases 1 and 2 Mutations

  2011cites this paper
• Glioblastoma: Germline Mutation of TP53

  2011cites this paper
• Scientific correspondence

  2011cites this paper
• LITHUANIAN UNIVERSITY OF HEALTH SCIENCES MEDICAL ACADEMY

  2011cites this paper
• Isocitrate dehydrogenase mutations in diffuse gliomas: clinical and aetiological implications

  2011cites this paper
• Isocitrate dehydrogenase-1 mutations: a fundamentally new understanding of diffuse glioma?

  2011cites this paper
• Isocitrate dehydrogenase mutations: A challenge to traditional views on the genesis and malignant progression of gliomas

  2011influential citation
• Secondary anaplastic astrocytoma developing in a young adult with autoimmune lymphoproliferative syndrome (ALPS)

  2011cites this paper
• IDH1 and IDH2 mutations, immunohistochemistry and associations in a series of brain tumors

  2011cites this paper
• Aberrant Signaling Pathways in Glioma

  2011cites this paper
• Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.

  2010cites this paper
• IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication.

  2010cites this paper
• IDH mutations in glioma and acute myeloid leukemia.

  2010cites this paper
• Identification of several novel non-p.R132 IDH1 variants in thyroid carcinomas.

  2010cites this paper
• Isocitrate dehydrogenase 1 and 2 mutations in cancer: alterations at a crossroads of cellular metabolism.

  2010cites this paper
• The prognostic IDH1R132 mutation is associated with reduced NADP+-dependent IDH activity in glioblastoma

  2010cites this paper
• Update on molecular findings, management and outcome in low-grade gliomas

  2010cites this paper
• Rosette-forming glioneuronal tumor: a pineal region case with IDH1 and IDH2 mutation analyses and literature review of 43 cases

  2010cites this paper
• Analysis of isocitrate dehydrogenase-1/2 gene mutations in gliomas.

  2010cites this paper
• Segregation of non‐p.R132H mutations in IDH1 in distinct molecular subtypes of glioma

  2010cites this paper
• Molecular diagnostics of gliomas: state of the art

  2010cites this paper
• Rapid and sensitive assessment of the IDH1 and IDH2 mutation status in cerebral gliomas based on DNA pyrosequencing

  2010cites this paper
• Paediatric high and low grade glioma: the impact of tumour biology on current and future therapy

  2009cites this paper
• Type and frequency of IDH1 and IDH2 mutations are related to astrocytic and oligodendroglial differentiation and age: a study of 1,010 diffuse gliomas

  2009cites this paper
• puBlICatIons du personnel du CIrC 2008-2009

  2009cites this paper
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  2008cites this paper