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...

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Autores principales:	Manabu Natsumeda, Hironaka Igarashi, Ramil Gabdulkhaev, Haruhiko Takahashi, Kunio Motohashi, Ryosuke Ogura, Jun Watanabe, Yoshihiro Tsukamoto, Kouichirou Okamoto, Akiyoshi Kakita, Tsutomu Nakada, Yukihiko Fujii
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	2-hydroxyglutarate glioma magnetic resonance spectroscopy rare IDH mutations false-positive Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/02c8ce6392cb47eda48b441c0572e5df
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spelling	oai:doaj.org-article:02c8ce6392cb47eda48b441c0572e5df2021-11-25T17:21:51ZDetection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of “False-Positive” Cases10.3390/diagnostics111121292075-4418https://doaj.org/article/02c8ce6392cb47eda48b441c0572e5df2021-11-01T00:00:00Zhttps://www.mdpi.com/2075-4418/11/11/2129https://doaj.org/toc/2075-4418We 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 <i>IDH2</i> mutation by Sanger sequencing. Adequate tissue for DNA analysis was available in 4 out of 5 cases. We found rare <i>IDH2</i> mutations in two cases, with <i>IDH2</i> R172W mutation in one case and <i>IDH2</i> 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 <i>IDH1</i> and <i>IDH2</i> mutations in gliomas.Manabu NatsumedaHironaka IgarashiRamil GabdulkhaevHaruhiko TakahashiKunio MotohashiRyosuke OguraJun WatanabeYoshihiro TsukamotoKouichirou OkamotoAkiyoshi KakitaTsutomu NakadaYukihiko FujiiMDPI AGarticle2-hydroxyglutarategliomamagnetic resonance spectroscopyrare IDH mutationsfalse-positiveMedicine (General)R5-920ENDiagnostics, Vol 11, Iss 2129, p 2129 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	2-hydroxyglutarate glioma magnetic resonance spectroscopy rare IDH mutations false-positive Medicine (General) R5-920
spellingShingle	2-hydroxyglutarate glioma magnetic resonance spectroscopy rare IDH mutations false-positive Medicine (General) R5-920 Manabu Natsumeda Hironaka Igarashi Ramil Gabdulkhaev Haruhiko Takahashi Kunio Motohashi Ryosuke Ogura Jun Watanabe Yoshihiro Tsukamoto Kouichirou Okamoto Akiyoshi Kakita Tsutomu Nakada Yukihiko Fujii Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of “False-Positive” Cases
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 <i>IDH2</i> mutation by Sanger sequencing. Adequate tissue for DNA analysis was available in 4 out of 5 cases. We found rare <i>IDH2</i> mutations in two cases, with <i>IDH2</i> R172W mutation in one case and <i>IDH2</i> 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 <i>IDH1</i> and <i>IDH2</i> mutations in gliomas.
format	article
author	Manabu Natsumeda Hironaka Igarashi Ramil Gabdulkhaev Haruhiko Takahashi Kunio Motohashi Ryosuke Ogura Jun Watanabe Yoshihiro Tsukamoto Kouichirou Okamoto Akiyoshi Kakita Tsutomu Nakada Yukihiko Fujii
author_facet	Manabu Natsumeda Hironaka Igarashi Ramil Gabdulkhaev Haruhiko Takahashi Kunio Motohashi Ryosuke Ogura Jun Watanabe Yoshihiro Tsukamoto Kouichirou Okamoto Akiyoshi Kakita Tsutomu Nakada Yukihiko Fujii
author_sort	Manabu Natsumeda
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_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_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_sort	detection of 2-hydroxyglutarate by 3.0-tesla magnetic resonance spectroscopy in gliomas with rare idh mutations: making sense of “false-positive” cases
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/02c8ce6392cb47eda48b441c0572e5df
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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

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