title: IDH1 R132H mutation in a pilocytic astrocytoma: a case report.
abstract: We present the case of a 72-year old female with a right cerebellar pilocytic astrocytoma WHO grade I with an Isocitrate dehydrogenase 1 (IDH1) R132H mutation. The patient is recurrence-free 6 years after the initial diagnosis. Only one single case with strikingly similar clinicopathological features has been reported before. Otherwise, IDH1/2 mutations are not seen in pilocytic astrocytomas. The clinical implications of these findings are discussed.
authors.affiliation: Department of Neurosurgery, Eberhard-Karls-University Tuebingen, Germany.
authors.forename: Felix
authors.initials: F
authors.lastname: Behling
authors.affiliation: Department of Pathology and Neuropathology, Eberhard-Karls-University Tuebingen, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Steinhilber
authors.affiliation: Department of Neurosurgery, Eberhard-Karls-University Tuebingen, Germany.
authors.forename: Marcos
authors.initials: M
authors.lastname: Tatagiba
authors.affiliation: Department of Neuroradiology, Eberhard-Karls-University Tuebingen, Germany.
authors.forename: Sotirios
authors.initials: S
authors.lastname: Bisdas
authors.affiliation: Department of Pathology and Neuropathology, Eberhard-Karls-University Tuebingen, Germany.
authors.forename: Jens
authors.initials: J
authors.lastname: Schittenhelm
mesh_terms: D000368:Aged; D001254:Astrocytoma / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D014408:Biomarkers, Tumor / Q000235:genetics*; D002528:Cerebellar Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human
keywords: IDH1; biomarker; pilocytic astrocytoma