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Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of “False-Positive” Cases
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 acc...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8619588/ https://www.ncbi.nlm.nih.gov/pubmed/34829476 http://dx.doi.org/10.3390/diagnostics11112129 |
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author | Natsumeda, Manabu Igarashi, Hironaka Gabdulkhaev, Ramil Takahashi, Haruhiko Motohashi, Kunio Ogura, Ryosuke Watanabe, Jun Tsukamoto, Yoshihiro Okamoto, Kouichirou Kakita, Akiyoshi Nakada, Tsutomu Fujii, Yukihiko |
author_facet | Natsumeda, Manabu Igarashi, Hironaka Gabdulkhaev, Ramil Takahashi, Haruhiko Motohashi, Kunio Ogura, Ryosuke Watanabe, Jun Tsukamoto, Yoshihiro Okamoto, Kouichirou Kakita, Akiyoshi Nakada, Tsutomu Fujii, Yukihiko |
author_sort | Natsumeda, Manabu |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8619588 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-86195882021-11-27 Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of “False-Positive” Cases Natsumeda, Manabu Igarashi, Hironaka Gabdulkhaev, Ramil Takahashi, Haruhiko Motohashi, Kunio Ogura, Ryosuke Watanabe, Jun Tsukamoto, Yoshihiro Okamoto, Kouichirou Kakita, Akiyoshi Nakada, Tsutomu Fujii, Yukihiko Diagnostics (Basel) Communication 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. MDPI 2021-11-16 /pmc/articles/PMC8619588/ /pubmed/34829476 http://dx.doi.org/10.3390/diagnostics11112129 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Communication Natsumeda, Manabu Igarashi, Hironaka Gabdulkhaev, Ramil Takahashi, Haruhiko Motohashi, Kunio Ogura, Ryosuke Watanabe, Jun Tsukamoto, Yoshihiro Okamoto, Kouichirou Kakita, Akiyoshi Nakada, Tsutomu Fujii, Yukihiko Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of “False-Positive” Cases |
title | Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of “False-Positive” Cases |
title_full | Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of “False-Positive” Cases |
title_fullStr | Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of “False-Positive” Cases |
title_full_unstemmed | Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of “False-Positive” Cases |
title_short | Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of “False-Positive” Cases |
title_sort | detection of 2-hydroxyglutarate by 3.0-tesla magnetic resonance spectroscopy in gliomas with rare idh mutations: making sense of “false-positive” cases |
topic | Communication |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8619588/ https://www.ncbi.nlm.nih.gov/pubmed/34829476 http://dx.doi.org/10.3390/diagnostics11112129 |
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