• World Neurosurg · Jul 2020

    Review Case Reports

    Cerebellar pleomorphic xanthoastrocytoma with BRAF V600E mutation: A case report.

    • Sang Ho Kim, Kihwan Hwang, Kyu Sang Lee, Gheeyoung Choe, and Chae-Yong Kim.
    • School of Medicine, The University of Auckland, Auckland, New Zealand; Department of Neurosurgery, Seoul National University Bundang Hospital, Seongnam-si, Republic of Korea.
    • World Neurosurg. 2020 Jul 1; 139: 577-581.

    BackgroundPleomorphic xanthoastrocytoma (PXA) is a rare type of astrocytoma with a peak incidence from 10 to 19 years of age. PXA is found most commonly in the supratentorium. When it is present in atypical areas such as the infratentorium, it is often overlooked as a potential differential diagnosis.Case DescriptionThis report discusses the case of an 18-year-old woman with a pure PXA in the left cerebellum. The case consists of interesting pathologic and molecular features which do not align with the literature about PXA: a positive finding for BRAF V600E mutation and a negative finding for cluster of differentiation 34 expression. A review of pure PXA cases in the infratentorium has also been completed.ConclusionsTo our knowledge, this is the first case of PXA in the infratentorium with BRAF V600E mutation. The case also highlights the clinical relevance of including PXA as a differential diagnosis for lesions of the infratentorium.Copyright © 2020 Elsevier Inc. All rights reserved.

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