Non-Invasive Detection of the IDH-1 Gene Mutation in Cerebral Gliomas Based on Proton MR Spectroscopy

Mutations in isocitrate dehydrogenase (IDH) genes have important prognostic signifi cance for patients with glial neoplasms of the brain. Proton MR spectroscopy provides non-invasive determination of the metabolic properties of tumor tissue at the preoperative stage. The aim of the present work was to investigate the feasibility of determining isocitrate dehydrogenase (IDH) mutation status using magnetic resonance spectroscopy (MRS) to detect the presence of 2-hydroxyglutarate (2HG), the metabolic product of the enzyme IDH. We examined 33 patients with glial brain tumors with different degrees of malignancy (grades 2–4), with subsequent identifi cation of IDH mutations. IDH mutations found by proton MRS were confi rmed immunohistochemically in 20 cases. In 13 cases, the 2HG peak was not detected on the MR spectrum and analysis of IDH did not reveal mutations. The use of proton MRS has demonstrated that this method has high sensitivity in predicting the mutation status of glial brain tumors, which makes this method an important tool in preoperative diagnosis.