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BRAF V600E-mutated diffuse glioma in an adult patient: a case report and review

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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.

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Acknowledgments

We thank Dr. M Ruberg for a critical reading of the manuscript, Drs. Shinji Ito and Dr. Takashi Komori for the immunohistochemistry, and the latter for kind advice concerning the diagnosis.

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Authors and Affiliations

  1. Department of Neurosurgery, The Jikei University School of Medicine, Tokyo, Japan

    Yuta Suzuki, Yasuharu Akasaki, Ryosuke Mori, Kostadin Karagiozov, Tatsuhiro Joki, Satoshi Ikeuchi & Yuichi Murayama

  2. Department of Neuropathology, Brain Bank for Aging Research, Tokyo Metropolitan Institute of Gerontology, 35-2 Sakae-cho, Itabashi-ku, Tokyo, 173-0015, Japan

    Junko Takahashi-Fujigasaki

  3. Department of Radiology, The Jikei University School of Medicine, Tokyo, Japan

    Satoshi Matsushima

  4. Department of Pathology, The Jikei University School of Medicine, Tokyo, Japan

    Masahiro Ikegami

  5. Division of Molecular Cell Biology, Core Research Facilities for Basic Science, The Jikei University School of Medicine, Tokyo, Japan

    Yoshinobu Manome

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  1. Yuta Suzuki
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  2. Junko Takahashi-Fujigasaki
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  3. Yasuharu Akasaki
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  4. Satoshi Matsushima
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Correspondence to Junko Takahashi-Fujigasaki.

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Suzuki, Y., Takahashi-Fujigasaki, J., Akasaki, Y. et al. BRAF V600E-mutated diffuse glioma in an adult patient: a case report and review. Brain Tumor Pathol 33, 40–49 (2016). https://doi.org/10.1007/s10014-015-0234-4

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  • DOI: https://doi.org/10.1007/s10014-015-0234-4

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