Leif Østergaard

Non-invasive assessment of Isocitrate dehydrogenase (IDH) mutational status in cerebral gliomas by Magnetic Resonance Spectroscopy in a clinical setting

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  • Anna Tietze
  • Changho Choi, Advanced Imaging Research Center – Radiology, University of Texas Southwestern Medical Center, Dallas, TX, USA, United States
  • Bruce Mickey, Neurological Surgery Clinic, University of Texas Southwestern, Dallas, TX, USA, United States
  • Elizabeth Maher, Depts. of Internal Medicine, Neurology & Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA, United States
  • Benedicte Parm Ulhøi
  • ,
  • Ryan Sangill
  • Yasmin Alexandra Lassen
  • Slávka Lukácová
  • ,
  • Leif Østergaard
  • Gorm von Oettingen
Background: Mutations in the Isocitrate Dehydrogenase (IDH) gene are of proven diagnostic and prognostic significance for cerebral gliomas. We evaluated the clinical feasibility of using a recently described method for determining IDH mutational status by using Magnetic Resonance Spectroscopy (MRS) to detect the presence of 2-hydroxyglutarate (2HG), the metabolic product of the mutant IDH enzyme. Material&Methods: By extending our imaging time by 6 minutes, we were able to include a point-resolved spectroscopy (PRESS) MRS sequence in our routine glioma imaging protocol. Of 35 patients imaged, 30 were subsequently diagnosed histologically as gliomas. Of the remaining 5 patients, one had a gangliocytoma, one a primary CNS lymphoma, and 3 had non-neoplastic lesions. Immunohistochemistry and/or polymerase chain reaction (PCR) were used to detect the presence of IDH mutations in the glioma tissue resected. Results: In vivo MRS for 2HG correctly identified the IDH mutational status in 88.6% of patients. The sensitivity and specificity was 89.5% and 81.3%, respectively, when using 2mM 2HG as threshold to discriminate IDH-mutated from wildtype tumors. Two glioblastomas that had elevated 2HG levels did not have detectable IDH-mutations, and in two IDH mutated gliomas 2HG was not reliably detectable. Conclusion: The non-invasive determination of the IDH mutational status of a presumed glioma by means of MRS may be incorporated into a routine diagnostic imaging protocol and can be used to obtain additional information for patient care.
Original languageEnglish
JournalJournal of Neurosurgery
Publication statusPublished - 3 Mar 2017

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