CC BY-NC-ND 4.0 · Asian J Neurosurg 2018; 13(02): 414-417
DOI: 10.4103/1793-5482.228540
Case Report

IDH1 mutation in brain stem glioma: Case report and review of literature

Seyed Javadi
1   Brain and Spinal Injury Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran
2   Department of Neurosurgery, International Neuroscience Institute, Hannover
,
Christian Hartmann
3   Department of Neuropathology, Hannover Medical School (MHH), Institute of Pathology, Hannover
,
Gerhard Walter
2   Department of Neurosurgery, International Neuroscience Institute, Hannover
,
Roozbeh Banan
3   Department of Neuropathology, Hannover Medical School (MHH), Institute of Pathology, Hannover
,
Amir Samii
2   Department of Neurosurgery, International Neuroscience Institute, Hannover
4   Department of Neurosurgery, International Neuroscience Institute, Hannover; Leibniz Institute for Neurobiology, Magdeburg
› Author Affiliations

The role of isocitrate dehydrogenase 1 (IDH1) mutation in brain stem glioma is not clear. To the best of our knowledge, six cases of brain stem gliomas carrying IDH1/2 mutations are currently reported in the literature. One case of diffuse brain stem glioma with IDH1 mutation, which was followed for 2 years, is presented and compared with IDH1 negative tumors. A 22-year-old lady was referred with diplopia and left arm palsy. Neuroimaging detected a nonenhancing, nonhomogeneous diffuse infiltrating brain stem tumor extending from pons to medulla. Microsurgical debulking was performed. Microscopic evaluation of the tissue specimen and immunohistochemistry revealed an astrocytoma WHO Grade II with proliferation rate of 3% and glial fibrillary acidic protein (GFAP)-positive tumor cells. Interestingly, the tumor cells expressed mutated IDH1 R132H protein. The patient underwent adjuvant radiation and chemotherapy. The primary and 2 years' clinical/radiological characteristics did not indicate any significant difference from other cases without IDH1 mutation. the prognostic value of IDH1/2 mutation in brain stem glioma is unclear. Brain stem biopsies may allow determination of a tissue-based tumor diagnosis for further investigations.



Publication History

Article published online:
14 September 2022

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