Cachia David, Prado Marta Penas, Theeler Brett, Hamilton Jackson, McCutcheon Ian, Fuller Gregory N
Clin Neuropathol. 2014 Nov-Dec;33(6):407-11. doi: 10.5414/NP300767.
Rosette-forming glioneuronal tumor (WHO grade I) is a rare neoplasm primarily arising in young adults that is characterized by distinctive neurocytic rosette formation, a spindled glial component resembling pilocytic astrocytoma, and a high incidence of PIK3CA mutation. Low-grade diffuse astrocytoma (WHO grade II), on the other hand, is far more common and is characterized by a high incidence of IDH mutation. Here we report a patient with simultaneous presentation of a midbrain-cerebellar rosetteforming glioneuronal tumor and a cerebral diffuse astrocytoma. Molecular characterization of both tumors confirmed characteristic, mutually exclusive, distinct signatures, with the rosette-forming glioneuronal tumor exhibiting a previously unreported novel PIK3CA gene mutation.
菊形团形成性胶质神经元肿瘤(世界卫生组织一级)是一种罕见的肿瘤,主要发生于年轻人,其特征为独特的神经细胞菊形团形成、类似毛细胞型星形细胞瘤的梭形胶质成分以及PIK3CA突变的高发生率。另一方面,低级别弥漫性星形细胞瘤(世界卫生组织二级)更为常见,其特征为IDH突变的高发生率。在此,我们报告一例同时出现中脑 - 小脑菊形团形成性胶质神经元肿瘤和脑弥漫性星形细胞瘤的患者。对这两种肿瘤的分子特征分析证实了其具有特征性、相互排斥且截然不同的特征,其中菊形团形成性胶质神经元肿瘤表现出一种此前未报道的新型PIK3CA基因突变。