title: A case of an epithelioid glioblastoma with the BRAF V600E mutation colocalized with BRAF intact low-grade diffuse astrocytoma.
abstract: Epithelioid glioblastomas are one of the rarest histological variants of glioblastomas, which are not formally recognized by the World Health Organization (WHO) classification. Epithelioid glioblastomas usually occur as primary lesions, but there have been several reports of secondary epithelioid glioblastomas or epithelioid glioblastomas with pre- or co-existing lesions to date. The serine/threonine-protein kinase B-Raf (BRAF) V600E mutation has been found at a high frequency of 54% in epithelioid glioblastomas. We present a case of a 26-year-old female patient with an epithelioid glioblastoma with the BRAF V600E mutation in her right frontal lobe. In the present case, a low-grade diffuse astrocytoma component had colocalized with the epithelioid glioblastoma. The component presented prominent calcification on neuroimages as well as by histology, and low-grade diffuse astrocytoma was considered to be a precursor lesion of an epithelioid glioblastoma. However, the BRAF V600E mutation was detected only in epithelioid glioblastoma but not in low-grade diffuse astrocytoma. To the best of our knowledge, this is the first report demonstrating a discrepancy in the BRAF V600E mutation states between epithelioid glioblastoma and colocalized low-grade astrocytoma.
authors.affiliation: Department of Neurosurgery, Kumamoto University, Graduate School of Medicine, Kumamoto, Japan.
authors.forename: Jun-Ichiro
authors.initials: J
authors.lastname: Kuroda
authors.affiliation: Department of Human Pathology, Gunma University, Graduate School of Medicine, Gunma, Japan.
authors.forename: Sumihito
authors.initials: S
authors.lastname: Nobusawa
authors.affiliation: Department of Neurosurgery, Kumamoto University, Graduate School of Medicine, Kumamoto, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Nakamura
authors.affiliation: Department of Human Pathology, Gunma University, Graduate School of Medicine, Gunma, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Yokoo
authors.affiliation: Tokuda Neurosurgical Hospital, Kagoshima, Japan.
authors.forename: Ryuta
authors.initials: R
authors.lastname: Ueda
authors.affiliation: Department of Neurosurgery, Kumamoto University, Graduate School of Medicine, Kumamoto, Japan.
authors.forename: Keishi
authors.initials: K
authors.lastname: Makino
authors.affiliation: Department of Neurosurgery, Kumamoto University, Graduate School of Medicine, Kumamoto, Japan.
authors.forename: Shigetoshi
authors.initials: S
authors.lastname: Yano
authors.affiliation: Department of Neurosurgery, Kumamoto University, Graduate School of Medicine, Kumamoto, Japan.
authors.forename: Jun-ichi
authors.initials: J
authors.lastname: Kuratsu
mesh_terms: D000328:Adult; D001254:Astrocytoma / Q000235:genetics* / Q000473:pathology; D014408:Biomarkers, Tumor / Q000032:analysis; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D005909:Glioblastoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D009154:Mutation; D060787:Neoplasm Grading; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: BRAF V600E mutation; dissemination; epithelioid glioblastoma; low-grade diffuse astrocytoma; metastasis