Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of 'False-Positive' Cases
| Autor: | Ramil Gabdulkhaev, Hironaka Igarashi, Manabu Natsumeda, Akiyoshi Kakita, Kouichirou Okamoto, Jun Watanabe, Kunio Motohashi, Yoshihiro Tsukamoto, Haruhiko Takahashi, Yukihiko Fujii, Ryosuke Ogura, Tsutomu Nakada |
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| Rok vydání: | 2021 |
| Předmět: |
Sanger sequencing
Medicine (General) Mutation IDH1 business.industry Communication Clinical Biochemistry Mutant 2-hydroxyglutarate medicine.disease medicine.disease_cause IDH2 magnetic resonance spectroscopy symbols.namesake R5-920 Isocitrate dehydrogenase Glioma glioma rare IDH mutations Cancer research medicine symbols Primer (molecular biology) false-positive business |
| Zdroj: | Diagnostics Diagnostics, Vol 11, Iss 2129, p 2129 (2021) |
| ISSN: | 2075-4418 |
| Popis: | We have previously published a study on the reliable detection of 2-hydroxyglutarate (2HG) in lower-grade gliomas by magnetic resonance spectroscopy (MRS). In this short article, we re-evaluated five glioma cases originally assessed as isocitrate dehydrogenase (IDH) wildtype, which showed a high accumulation of 2HG, and were thought to be false-positives. A new primer was used for the detection of IDH2 mutation by Sanger sequencing. Adequate tissue for DNA analysis was available in 4 out of 5 cases. We found rare IDH2 mutations in two cases, with IDH2 R172W mutation in one case and IDH2 R172K mutation in another case. Both cases had very small mutant peaks, suggesting that the tumor volume was low in the tumor samples. Thus, the specificity of MRS for detecting IDH1/2 mutations was higher (81.3%) than that originally reported (72.2%). The detection of 2HG by MRS can aid in the diagnosis of rare, non-IDH1-R132H IDH1 and IDH2 mutations in gliomas. |
| Databáze: | OpenAIRE |
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