Tuna, GamzeDal-Bekar, Nazli EcemAkay, AliRuksen, MeteIslekel, SertacIslekel, Gul Huray2023-06-162023-06-1620220022-30691554-6578https://doi.org/10.1093/jnen/nlac036https://hdl.handle.net/20.500.14365/1837Isocitrate dehydrogenase-1 (IDH1) mutation is accepted as one of the earliest events in tumorigenesis in gliomas. This mutation causes preferential accumulation of D- relative to L-enantiomer of 2-hydroxyglutarate (2-HG). Minimally invasive techniques to detect IDH1 mutation may prove useful for clinical practice. We adopted 2 different diagnostic approaches to detect IDH1 mutation status in glioma patients: Evaluation of D- and L-2-HG levels in cerebrospinal fluid (CSF), urine, and plasma, and identification of IDH1 mutation using cell-free circulating tumor DNA (ctDNA) in CSF and plasma. Forty-nine glioma patients in different stages were included. Levels of D- and L-2-HG were determined using liquid chromatography-tandem mass spectrometry; IDH1 R132H mutation was determined by digital-PCR. D-2-HG levels and D/L-2-HG ratio (rDL) in CSF and rDL in plasma were significantly higher in the mutant group than in the wild-type group (p = 0.029, 0.032, 0.001, respectively). The IDH1 mutation detection rates in CSF- and plasma-ctDNA were 63.2% and 25.0%, respectively. These data indicate that D-2-HG values in CSF and rDL in plasma and CSF can be considered as significant contributors to the identification of IDH1 mutation status. In addition, detection of IDH1 mutation in CSF-ctDNA from glioma patients provides a basis for future use of ctDNA for minimally invasive clinical assessment of gliomas.eninfo:eu-repo/semantics/closedAccessCell-free circulating tumor DNADL-2-hydroxyglutarate ratioD-2-hydroxyglutarateGliomasIDH1 mutationL-2-hydroxyglutarateLiquid biopsyCentral-Nervous-SystemUrinary 2-HydroxyglutarateClassificationPlasmaArticle10.1093/jnen/nlac0362-s2.0-85132453496