Rapid detection of mutation in isocitrate dehydrogenase 1 and 2 genes using mass spectrometry

Masayuki Kanamori, Masamitsu Maekawa, Ichiyo Shibahara, Ryuta Saito, Masashi Chonan, Miki Shimada, Yukihiko Sonoda, Toshihiro Kumabe, Mika Watanabe, Nariyasu Mano, Teiji Tominaga

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)


The 2016 World Health Organization classification of tumors of the central nervous system was recently revised. Mutations in the isocitrate dehydrogenase 1 (IDH1) and IDH2 genes and chromosome 1p/19q codeletion are especially important for both the integrated diagnosis and the determination of surgical strategy. To establish a method for intraoperative molecular diagnosis, a simple, rapid method was developed for the measurement of 2-hydroxyglutarate (2-HG), a specific oncometabolite formed in the presence of IDH gene mutation, using liquid chromatography/electrospray ionization tandem mass spectrometry (LC/ESI–MS/MS). This method requires only 10 min to measure the level of 2-HG from tissue preparation to completion of examination. Using this method, the level of 2-HG was analyzed in 105 patients with diffuse infiltrating glioma, and showed that IDH mutated glioma had significantly higher level of 2-HG compared to IDH wild-type glioma. Receiver operating characteristic curve analysis showed the area under the curve, sensitivity, and specificity were 0.9815, 97.5, and 100%, respectively. In contrast, tumor grade and presence of chromosome 1p/19q codeletion in the IDH mutated glioma could not be predicted from the level of 2-HG. Measurement of 2-HG level using LC/ESI–MS/MS can provide rapid and accurate information of mutation status in the IDH gene.

Original languageEnglish
Pages (from-to)90-96
Number of pages7
JournalBrain Tumor Pathology
Issue number2
Publication statusPublished - 2018 Apr 1


  • Glioma
  • IDH1 and IDH2 genes
  • Mass spectrometry
  • Mutation

ASJC Scopus subject areas

  • Oncology
  • Clinical Neurology
  • Cancer Research


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