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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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
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author Ballester, Leomar Y.
Penas-Prado, Marta
Leeds, Norman E.
Huse, Jason T.
Fuller, Gregory N.
author_facet Ballester, Leomar Y.
Penas-Prado, Marta
Leeds, Norman E.
Huse, Jason T.
Fuller, Gregory N.
author_sort Ballester, Leomar Y.
collection PubMed
description 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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spelling pubmed-58802592018-04-13 FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia Ballester, Leomar Y. Penas-Prado, Marta Leeds, Norman E. Huse, Jason T. Fuller, Gregory N. Cold Spring Harb Mol Case Stud Rapid Cancer Communication 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. Cold Spring Harbor Laboratory Press 2018-04 /pmc/articles/PMC5880259/ /pubmed/29610389 http://dx.doi.org/10.1101/mcs.a002378 Text en © 2018 Ballester et al.; Published by Cold Spring Harbor Laboratory Press http://creativecommons.org/licenses/by/4.0/ This article is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted reuse and redistribution provided that the original author and source are credited.
spellingShingle Rapid Cancer Communication
Ballester, Leomar Y.
Penas-Prado, Marta
Leeds, Norman E.
Huse, Jason T.
Fuller, Gregory N.
FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia
title FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia
title_full FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia
title_fullStr FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia
title_full_unstemmed FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia
title_short FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia
title_sort fgfr1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia
topic Rapid Cancer Communication
url 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
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