The authors present the case of a primary gliosarcoma with an isocitrate dehydrogenase-1 (IDH1) mutation. A 75-year-old man presented with a 3-day history of multiple focal seizures and was found on MRI to have a 2.2-cm left parietal enhancing mass lesion. Brain MRI for tremor performed 8 years prior to this presentation was normal. En bloc resection revealed a high-grade glioma with sarcomatous components that was immunoreactive for the R132H variant of IDH1 by antibody. Gliosarcoma is a rare variant of glioblastoma that arises most frequently as a primary tumor, and has equal or worse survival and an increased propensity for extracranial metastases compared with other Grade 4 gliomas. In contrast, isocitrate dehydrogenase-1 and -2 mutations are associated with low-grade gliomas with increased survival and less commonly with glioblastoma. To the authors' knowledge, there has been only 1 other published report of a primary gliosarcoma carrying an isocitrate dehydrogenase mutation. This rare genetic-histological combination highlights potential differences between glioblastoma and gliosarcoma and may warrant additional study.
Keywords: EGFR = epidermal growth factor receptor; GFAP = glial fibrillary acidic protein; IDH1 = isocitrate dehydrogenase-1; glioblastoma; gliosarcoma; isocitrate dehydrogenase; oncology.