FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia

We report the case of a 27-yr-old male with visual field loss who had a 4.9-cm complex cystic mass in the right occipital lobe. Histologic examination showed pilocytic astrocytoma (PA) with anaplasia, and molecular characterization revealed FGFR1 duplication with additional variants of unknown signi...

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Detalles Bibliográficos
Autores principales: Ballester, Leomar Y., Penas-Prado, Marta, Leeds, Norman E., Huse, Jason T., Fuller, Gregory N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Rapid Cancer Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880259/
https://www.ncbi.nlm.nih.gov/pubmed/29610389
http://dx.doi.org/10.1101/mcs.a002378
Descripción
Sumario:We report the case of a 27-yr-old male with visual field loss who had a 4.9-cm complex cystic mass in the right occipital lobe. Histologic examination showed pilocytic astrocytoma (PA) with anaplasia, and molecular characterization revealed FGFR1 duplication with additional variants of unknown significance in several genes (ARID1A, ARID1B, CHEK2, EPHA5, and MLL2). This is one of only a very few reported cases of anaplastic PA with characterization of molecular alterations.

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