ArticleJournal of neuro-oncology2022
IDH1 p.R132H ctDNA and D-2-hydroxyglutarate as CSF biomarkers in patients with IDH-mutant gliomas.
Article in Journal of neuro-oncology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Cerebrospinal fluid ctDNA as a diagnostic and prognostic tool in gliomas: a systematic review and meta-analysis.Frontiers in oncology · 2025Pooled it
- Review
- Causal Associations of Cerebrospinal Fluid and Circulating Metabolites With Malignant Brain Neoplasms: A Mendelian Randomization Analysis.Brain and behavior · 2026Article
- Detection of IDH1.R132H mutant protein in plasma extracellular vesicles and its application in preoperative noninvasive precision diagnosis of glioma.BMC cancer · 2026Article
- The Clinical Utility of Cell-Free DNA in Brain Tumor Management: A Comprehensive Review.Journal of molecular neuroscience : MN · 2025Review
- The role of vorasidenib in the treatment of isocitrate dehydrogenase-mutant glioma.Neuro-oncology · 2025Review
- A field resource for the glioma cerebrospinal fluid proteome: Impacts of resection and location on biomarker discovery.Neuro-oncology · 2025Article
- Liquid Biopsy-Derived Tumor Biomarkers for Clinical Applications in Glioblastoma.Biomolecules · 2025Review
- From Biomarker Discovery to Clinical Applications of Metabolomics in Glioblastoma.Metabolites · 2025Review
- Liquid biopsies for the monitoring of gliomas and brain metastases in adults.Acta neuropathologica · 2025Review
- Targeted therapy for pediatric glioma: RAF(t)ing in the molecular era.World journal of pediatrics : WJP · 2025Review
- A genetically encoded fluorescent sensor enables sensitive and specific detection of IDH mutant associated oncometabolite D-2-hydroxyglutarate.BMC cancer · 2025Article
- Who will benefit from vorasidenib? Review of data from the literature and open questions.Neuro-oncology practice · 2025Review
- Integrating molecular profiling into glioma diagnosis: implications of the WHO-CNS5-2021 classification of adult-type diffuse gliomas in Colombian patients.Frontiers in neurology · 2025Article
- Review
- Clinical utility of a blood based assay for the detection of IDH1.R132H-mutant gliomas.Nature communications · 2024Article
- Review
- IDH inhibition in gliomas: from preclinical models to clinical trials.Nature reviews. Neurology · 2024Review
- Clinical applications of cerebrospinal fluid liquid biopsies in central nervous system tumors.Translational oncology · 2024Article
- The genomic alterations in glioblastoma influence the levels of CSF metabolites.Acta neuropathologica communications · 2024Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
Abstract
introductionWe aimed to evaluate IDH1 p.R132H mutation and 2-hydroxyglutarate (2HG) in cerebrospinal fluid (CSF) as biomarkers for patients with IDH-mutant gliomas.
methodsCSF was collected from patients with infiltrating glioma, and 2HG levels were measured by liquid chromatography-mass spectrometry. IDH1 p.R132H mutant allele frequency (MAF) in CSF-ctDNA was measured by digital droplet PCR (ddPCR). Tumor volume was measured from standard-of-care magnetic resonance images.
resultsThe study included 48 patients, 6 with IDH-mutant and 42 with IDH-wildtype gliomas, and 57 samples, 9 from the patients with IDH-mutant and 48 from the patients with IDH-wildtype gliomas. ctDNA was detected in 7 of the 9 samples from patients with IDH-mutant glioma, and IDH1 p.R132H mutation was detected in 5 of the 7 samples. The MAF ranged from 0.3 to 39.95%. Total 2HG level, D-2HG level, and D/L-2HG ratio in CSF were significantly higher in patients with IDH-mutant gliomas than in patients with IDH-wildtype gliomas. D-2HG level and D/L-2HG ratio correlated with total tumor volume in patients with IDH-mutant gliomas but not in patients with IDH-wildtype gliomas.
conclusionOur results suggest that detection of IDH1 p.R132H mutation by ddPCR and increased D-2HG level in CSF may help identify IDH-mutant gliomas. Our results also suggest that D-2HG level and D/L-2HG ratio correlate with tumor volume in patients with IDH-mutant gliomas. Further prospective studies with larger cohorts are needed to validate these findings.
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