3.0特斯拉磁共振波谱法检测具有罕见异柠檬酸脱氢酶（IDH）突变的胶质瘤中的2-羟基戊二酸：解读“假阳性”病例
Detection of 2-Hydroxyglutarate by 3.0-Tesla Magnetic Resonance Spectroscopy in Gliomas with Rare IDH Mutations: Making Sense of "False-Positive" Cases.
作者信息
Natsumeda Manabu, Igarashi Hironaka, Gabdulkhaev Ramil, Takahashi Haruhiko, Motohashi Kunio, Ogura Ryosuke, Watanabe Jun, Tsukamoto Yoshihiro, Okamoto Kouichirou, Kakita Akiyoshi, Nakada Tsutomu, Fujii Yukihiko
机构信息
Department of Neurosurgery, Brain Research Institute, Niigata University, Niigata 951-8122, Japan.
Center for Integrated Brain Sciences, Brain Research Institute, Niigata University, Niigata 951-8585, Japan.
出版信息
Diagnostics (Basel). 2021 Nov 16;11(11):2129. doi: 10.3390/diagnostics11112129.
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 mutation by Sanger sequencing. Adequate tissue for DNA analysis was available in 4 out of 5 cases. We found rare mutations in two cases, with R172W mutation in one case and 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 and mutations in gliomas.
我们之前发表过一项关于通过磁共振波谱（MRS）可靠检测低级别胶质瘤中2-羟基戊二酸（2HG）的研究。在这篇短文里，我们重新评估了5例最初被判定为异柠檬酸脱氢酶（IDH）野生型的胶质瘤病例，这些病例显示2HG高度蓄积，曾被认为是假阳性。使用了一种新引物通过桑格测序检测突变。5例中有4例有足够的组织用于DNA分析。我们在2例中发现了罕见突变，1例为R172W突变，另1例为R172K突变。这2例的突变峰都非常小，提示肿瘤样本中的肿瘤体积较小。因此，MRS检测IDH1/2突变的特异性高于最初报道的（81.3%比72.2%）。MRS检测2HG有助于诊断胶质瘤中罕见的非IDH1-R132H突变。
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