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Verfasst von:Ening, Genevieve [VerfasserIn]   i
 Capper, David [VerfasserIn]   i
 Meyer, Jochen [VerfasserIn]   i
 Janzarik, Wibke Gesine [VerfasserIn]   i
 Omran, Heymut [VerfasserIn]   i
 Herold-Mende, Christel [VerfasserIn]   i
 Schmieder, Kirsten [VerfasserIn]   i
 Wesseling, Pieter [VerfasserIn]   i
 Mawrin, Christian [VerfasserIn]   i
 Hasselblatt, Martin [VerfasserIn]   i
 Louis, David N. [VerfasserIn]   i
 Korshunov, Andrey [VerfasserIn]   i
 Pfister, Stefan [VerfasserIn]   i
 Hartmann, Christian [VerfasserIn]   i
 Paulus, Werner [VerfasserIn]   i
 Reifenberger, Guido [VerfasserIn]   i
 Deimling, Andreas von [VerfasserIn]   i
Titel:Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma
Verf.angabe:Genevieve Schindler, David Capper, Jochen Meyer, Wibke Janzarik, Heymut Omran, Christel Herold-Mende, Kirsten Schmieder, Pieter Wesseling, Christian Mawrin, Martin Hasselblatt, David N. Louis, Andrey Korshunov, Stefan Pfister, Christian Hartmann, Werner Paulus, Guido Reifenberger, Andreas von Deimling
E-Jahr:2011
Jahr:29 January 2011
Umfang:9 S.
Fussnoten:Gesehen am 11.10.2022
Titel Quelle:Enthalten in: Acta neuropathologica
Ort Quelle:Berlin : Springer, 1961
Jahr Quelle:2011
Band/Heft Quelle:121(2011), 3, Seite 397-405
ISSN Quelle:1432-0533
Abstract:Missense mutations of the V600E type constitute the vast majority of tumor-associated somatic alterations in the v-RAF murine sarcoma viral oncogene homolog B1 (BRAF) gene. Initially described in melanoma, colon and papillary thyroid carcinoma, these alterations have also been observed in primary nervous system tumors albeit at a low frequency. We analyzed exon 15 of BRAF spanning the V600 locus by direct sequencing in 1,320 adult and pediatric tumors of the nervous system including various types of glial, embryonal, neuronal and glioneuronal, meningeal, adenohypophyseal/sellar, and peripheral nervous system tumors. A total of 96 BRAF mutations were detected; 93 of the V600E type and 3 cases with a three base pair insertion between codons 599 and 600. The highest frequencies of BRAFV600E mutations were found in WHO grade II pleomorphic xanthoastrocytomas (42/64; 66%) and pleomorphic xanthoastrocytomas with anaplasia (15/23; 65%), as well as WHO grade I gangliogliomas (14/77; 18%), WHO grade III anaplastic gangliogliomas (3/6) and pilocytic astrocytomas (9/97; 9%). In pilocytic astrocytomas BRAFV600E mutation was strongly associated with extra-cerebellar location (p = 0.009) and was most frequent in diencephalic tumors (4/12; 33%). Glioblastomas and other gliomas were characterized by a low frequency or absence of mutations. No mutations were detected in non-glial tumors, including embryonal tumors, meningiomas, nerve sheath tumors and pituitary adenomas. The high mutation frequencies in pleomorphic xanthoastrocytomas, gangliogliomas and extra-cerebellar pilocytic astrocytomas implicate BRAFV600E mutation as a valuable diagnostic marker for these rare tumor entities. Future clinical trials should address whether BRAFV600E mutant brain tumor patients will benefit from BRAFV600E-directed targeted therapies.
DOI:doi:10.1007/s00401-011-0802-6
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1007/s00401-011-0802-6
 DOI: https://doi.org/10.1007/s00401-011-0802-6
Datenträger:Online-Ressource
Sprache:eng
Bibliogr. Hinweis:Erscheint auch als : Druck-Ausgabe: Ening, Genevieve, 1980 - : Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. - 2011
Sach-SW:BRAF
 Brain tumor
 Ganglioglioma
 Pleomorphic xanthoastrocytoma
 V600E mutation
K10plus-PPN:1818581175
Verknüpfungen:→ Zeitschrift

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