title: A novel all-in-one intraoperative genotyping system for IDH1-mutant glioma.
abstract: IDH1 gene mutation has been demonstrated to be an oncogenic driver in a majority of lower-grade gliomas (LGGs). In contrast to other central nervous neoplasms and normal brain tissue without IDH1 mutation, almost 80% of LGGs exhibit IDH1 mutation. Therefore, expeditious detection of IDH1 mutation is useful, not only for intraoperative diagnosis of these gliomas but also for determination of the border between the tumor and normal brain tissue. In this study, we established a rapid genotyping assay with a simple DNA extraction method, involving only incubation of the tumor specimen with Tris-EDTA buffer, which can be easily performed in an operating room. In all 11 tested cases, we could identify the IDH1 status within 90-100 min intraoperatively. In a case of anaplastic astrocytoma, IDH-mutant, we could detect the tumor border by IDH1 profiling. In addition, with this assay, we could detect IDH1 mutation using cell-free tumor DNA derived from cerebrospinal fluid in a case of glioblastoma, IDH-mutant. Considering that clinical trials of mutated IDH1 inhibitors are ongoing, less-invasive intraoperative IDH1 gene profiling might be useful for decision making of the overall treatment strategy of LGGs. Our assay might be a useful tool for precision medicine and surgery of IDH1-mutant gliomas.
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan. fohka@med.nagoya-u.ac.jp.
authors.forename: Fumiharu
authors.initials: F
authors.lastname: Ohka
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.|Department of Neurosurgery, Mie University, Tsu, Japan.
authors.forename: Akane
authors.initials: A
authors.lastname: Yamamichi
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Michihiro
authors.initials: M
authors.lastname: Kurimoto
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Kazuya
authors.initials: K
authors.lastname: Motomura
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Kuniaki
authors.initials: K
authors.lastname: Tanahashi
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.|Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Suzuki
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.|Department of Pathology and Tumor Biology, Kyoto University, Kyoto, Japan.
authors.forename: Kosuke
authors.initials: K
authors.lastname: Aoki
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Shoichi
authors.initials: S
authors.lastname: Deguchi
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Lushun
authors.initials: L
authors.lastname: Chalise
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Hirano
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Kato
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nishimura
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Masahito
authors.initials: M
authors.lastname: Hara
authors.affiliation: Department of Regional Innovation, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors.forename: Yukinari
authors.initials: Y
authors.lastname: Kato
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Wakabayashi
authors.affiliation: Department of Neurosurgery, Nagoya University, Nagoya, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Natsume
mesh_terms: D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D060005:Genotyping Techniques / Q000379:methods*; D005910:Glioma / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007432:Intraoperative Period; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D009154:Mutation
chemical_list: D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human
keywords: Diffuse glioma; IDH mutation; Intraoperative genotyping; Keywords