ArticleLaboratory investigation; a journal of technical methods and pathology2019
Rapid diagnosis of IDH1-mutated gliomas by 2-HG detection with gas chromatography mass spectrometry.
Article in Laboratory investigation; a journal of technical methods and pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 38 citations in OpenAlex.
- TAF15-mediated m5C modification of MTHFD2 RNA reveals a novel therapeutic target for IDH mutant gliomas.Biomarker research · 2026Article
- Mitochondrial Metabolomics in Cancer: Mass Spectrometry-Based Approaches for Metabolic Rewiring Analysis and Therapeutic Discovery.Metabolites · 2025Review
- Artificial Intelligent-Enhanced Metabolite Profiling for Intraoperative IDH1 Genotyping in Glioma Using an Orthogonally Responsive SERS Probe.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Global research trends and emerging themes in osteosarcoma metabolomics: a bibliometric and visualization analysis.Frontiers in molecular biosciences · 2025Article
- Intraoperative rapid molecular diagnosis aids glioma subtyping and guides precise surgical resection.Annals of clinical and translational neurology · 2024Article
- PPAR-γ agonists reactivate the ALDOC-NR2F1 axis to enhance sensitivity to temozolomide and suppress glioblastoma progression.Cell communication and signaling : CCS · 2024Article
- Rapid detection of isocitrate dehydrogenase 1 mutation status in glioma based on Crispr-Cas12a.Scientific reports · 2023Article
- High-throughput analysis of tissue microarrays using automated desorption electrospray ionization mass spectrometry.Scientific reports · 2022Article
- Combining hyperintense FLAIR rim and radiological features in identifying IDH mutant 1p/19q non-codeleted lower-grade glioma.European radiology · 2022Article
- Cancer metabolism and tumor microenvironment: fostering each other?Science China. Life sciences · 2022Review
- The diagnostic value of lower glucose consumption for IDH1 mutated gliomas on FDG-PET.BMC cancer · 2021Article
- The Inhibition of B7H3 by 2-HG Accumulation Is Associated With Downregulation of VEGFA in IDH Mutated Gliomas.Frontiers in cell and developmental biology · 2021Article
- Intraoperative DNA methylation classification of brain tumors impacts neurosurgical strategy.Neuro-oncology advancesArticle
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Authors and funding
17 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The metabolic genes encoding isocitrate dehydrogenase (IDH1, 2) are frequently mutated in gliomas. Mutation of IDH defines a distinct subtype of glioma and predicts therapeutic response. IDH mutation has a remarkable neomorphic activity of converting α-ketoglutarate (α-KG) to 2-hydroxyglutarate (2-HG), which is now commonly referred to as an oncometabolite and biomarker for gliomas. PCR-sequencing (n = 220), immunohistochemistry staining (IHC, n = 220), and gas chromatography mass spectrometry (GC-MS, n = 87) were applied to identify IDH mutation in gliomas, and the sensitivity and specificity of these strategies were compared. PCR-sequencing and IHC staining are reliable for retrospective assessment of IDH1 mutation in gliomas, but both methods usually take 1-2 days, which hinders their application for rapid diagnosis. GC-MS-based methods can detect 2-HG qualitatively and quantitatively, offering information on the IDH1 mutation status in gliomas with the sensitivity and specificity being 100%. Further optimization of the GC-MS based methodology (so called as the mini-column method) enabled us to determine 2-HG within 40 min in glioma samples without complex or time-consuming preparation. Most importantly, the ratio of 2-HG/glutamic acid was shown to be a reliable parameter for determination of mutation status. The mini-column method enables rapid identification of 2-HG, providing a promising strategy for intraoperative diagnosis of IDH1-mutated gliomas in the future.
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