FGFR1 tyrosine kinase domain duplication in pilocytic astrocytoma with anaplasia

毛细胞型星形细胞瘤伴间变性中的FGFR1酪氨酸激酶结构域重复

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Abstract

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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