BRAF‐Mutated Pleomorphic Xanthoastrocytoma is Associated with Temporal Location, Reticulin Fiber Deposition and CD34 Expression

Medientyp: E-Artikel
Titel: BRAF‐Mutated Pleomorphic Xanthoastrocytoma is Associated with Temporal Location, Reticulin Fiber Deposition and CD34 Expression
Beteiligte: Koelsche, Christian; Sahm, Felix; Wöhrer, Adelheid; Jeibmann, Astrid; Schittenhelm, Jens; Kohlhof, Patricia; Preusser, Matthias; Romeike, Bernd; Dohmen‐Scheufler, Hildegard; Hartmann, Christian; Mittelbronn, Michel; Becker, Albert; von Deimling, Andreas; Capper, David
Erschienen: Wiley, 2014
Erschienen in: Brain Pathology
Sprache: Englisch
DOI: 10.1111/bpa.12111
ISSN: 1015-6305; 1750-3639
Schlagwörter: Neurology (clinical) ; Pathology and Forensic Medicine ; General Neuroscience
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Beschreibung: <jats:title>Abstract</jats:title><jats:p><jats:styled-content style="fixed-case"><jats:italic>BRAF</jats:italic></jats:styled-content> V600E mutation and homozygous deletion of <jats:styled-content style="fixed-case"><jats:italic>CDKN2A</jats:italic></jats:styled-content> (<jats:styled-content style="fixed-case">p</jats:styled-content>16) are frequent molecular alterations in pleomorphic xanthoastrocytomas (<jats:styled-content style="fixed-case">PXA</jats:styled-content>s). We investigated 49 <jats:styled-content style="fixed-case">PXAs</jats:styled-content> for clinical, histological and immunohistochemical characteristics related to <jats:styled-content style="fixed-case"><jats:italic>BRAF</jats:italic></jats:styled-content> mutation status. <jats:styled-content style="fixed-case"><jats:italic>BRAF</jats:italic></jats:styled-content> mutation was detected by immunohistochemical assay and DNA sequencing in 38/49 (78%) tumors. All but one <jats:styled-content style="fixed-case">PXA</jats:styled-content> located in the temporal lobe harbored a <jats:styled-content style="fixed-case"><jats:italic>BRAF</jats:italic></jats:styled-content> V600E mutation (23/24; 96%) compared with 10/19 nontemporal <jats:styled-content style="fixed-case">PXAs</jats:styled-content> (53%; <jats:italic>P</jats:italic> = 0.0009). Histological and immunohistochemical analysis demonstrated increased reticulin deposition (76% vs. 27%; <jats:italic>P</jats:italic> = 0.003) and a more frequent expression of <jats:styled-content style="fixed-case">CD</jats:styled-content>34 in <jats:styled-content style="fixed-case"><jats:italic>BRAF</jats:italic></jats:styled-content>‐mutant <jats:styled-content style="fixed-case">PXAs</jats:styled-content> (76% vs. 27%; <jats:italic>P</jats:italic> = 0.003).</jats:p><jats:p>We further investigated the utility of combined <jats:styled-content style="fixed-case"><jats:italic>BRAF</jats:italic></jats:styled-content> V600E (<jats:styled-content style="fixed-case">VE</jats:styled-content>1) and <jats:styled-content style="fixed-case">p</jats:styled-content>16 analysis by immunohistochemistry to distinguish <jats:styled-content style="fixed-case">PXAs</jats:styled-content> from relevant histological mimics like giant‐cell glioblastoma. Among <jats:styled-content style="fixed-case">PXAs</jats:styled-content>, 38/49 (78%) were <jats:styled-content style="fixed-case">VE</jats:styled-content>1‐positive, and 30/49 (61%) had a loss of p16 expression. The combined features (<jats:styled-content style="fixed-case">VE</jats:styled-content>1 positivity/<jats:styled-content style="fixed-case">p</jats:styled-content>16 loss) were observed in 25/49 <jats:styled-content style="fixed-case">PXAs</jats:styled-content> (51%) but were not observed in giant‐cell glioblastoma (<jats:styled-content style="fixed-case">VE</jats:styled-content>1 0/28, <jats:styled-content style="fixed-case">p</jats:styled-content>16 loss 14/28). We demonstrate that temporal location, reticulin deposition and <jats:styled-content style="fixed-case">CD</jats:styled-content>34 expression are associated with <jats:styled-content style="fixed-case"><jats:italic>BRAF</jats:italic></jats:styled-content> mutation in <jats:styled-content style="fixed-case">PXA</jats:styled-content>. Combined <jats:styled-content style="fixed-case">VE</jats:styled-content>1 positivity and <jats:styled-content style="fixed-case">p</jats:styled-content>16 loss represents a frequent immunoprofile of <jats:styled-content style="fixed-case">PXA</jats:styled-content> and may therefore constitute an additional diagnostic tool for its differential diagnosis.</jats:p>
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