title: BRAF V600E-mutated diffuse glioma in an adult patient: a case report and review.
abstract: Recent advances in genomic technology and genome-wide analysis have identified key molecular alterations that are relevant to the diagnosis and prognosis of brain tumors. Molecular information such as mutations in isocitrate dehydrogenase (IDH) genes or 1p/19q co-deletion status will be more actively incorporated into the histological classification of diffuse gliomas. BRAF V600E mutations are found frequently in circumscribed low-grade gliomas such as pleomorphic xanthoastrocytoma (PXA) and extra-cerebellar pilocytic astrocytoma, or epithelioid glioblastomas (E-GBM), a rare variant of GBM. This mutation is relatively rare in other types of diffuse gliomas, especially in adult onset cases. Here, we present an adult onset case of IDH wild-type/BRAF V600E-mutated diffuse glioma, evolving from grade III to grade IV. The tumor displayed atypical exophytic growth and had unusual histological features not fully compatible with, but indicative of PXA and E-GBM. We discuss differential diagnosis of the tumor, and review previously described diffuse gliomas with the BRAF V600E mutation.
authors.affiliation: Department of Neurosurgery, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Yuta
authors.initials: Y
authors.lastname: Suzuki
authors.affiliation: Department of Neuropathology, Brain Bank for Aging Research, Tokyo Metropolitan Institute of Gerontology, 35-2 Sakae-cho, Itabashi-ku, Tokyo, 173-0015, Japan. jnkfuji.0529@gmail.com.
authors.forename: Junko
authors.initials: J
authors.lastname: Takahashi-Fujigasaki
authors.affiliation: Department of Neurosurgery, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Yasuharu
authors.initials: Y
authors.lastname: Akasaki
authors.affiliation: Department of Radiology, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Matsushima
authors.affiliation: Department of Neurosurgery, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Mori
authors.affiliation: Department of Neurosurgery, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Kostadin
authors.initials: K
authors.lastname: Karagiozov
authors.affiliation: Department of Neurosurgery, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Tatsuhiro
authors.initials: T
authors.lastname: Joki
authors.affiliation: Department of Neurosurgery, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Ikeuchi
authors.affiliation: Department of Pathology, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Masahiro
authors.initials: M
authors.lastname: Ikegami
authors.affiliation: Division of Molecular Cell Biology, Core Research Facilities for Basic Science, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Yoshinobu
authors.initials: Y
authors.lastname: Manome
authors.affiliation: Department of Neurosurgery, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Murayama
mesh_terms: D000328:Adult; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005910:Glioma / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009367:Neoplasm Staging; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: D007521:Isocitrate Dehydrogenase; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf
keywords: Anaplastic astrocytoma; BRAF mutation; Glioblastoma