TY - JOUR
T1 - Non-invasive assessment of Isocitrate dehydrogenase (IDH) mutational status in cerebral gliomas by Magnetic Resonance Spectroscopy in a clinical setting
AU - Tietze, Anna
AU - Choi, Changho
AU - Mickey, Bruce
AU - Maher, Elizabeth
AU - Ulhøi, Benedicte Parm
AU - Sangill, Ryan
AU - Lassen, Yasmin Alexandra
AU - Lukácová, Slávka
AU - Østergaard, Leif
AU - Oettingen, Gorm von
PY - 2017/3/3
Y1 - 2017/3/3
N2 - 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.
AB - 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.
M3 - Journal article
SN - 0022-3085
JO - Journal of Neurosurgery
JF - Journal of Neurosurgery
ER -