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同步性菊形团形成性胶质神经元肿瘤和弥漫性星形细胞瘤及其分子特征:一例报告

Synchronous rosette-forming glioneuronal tumor and diffuse astrocytoma with molecular characterization: a case report.

作者信息

Cachia David, Prado Marta Penas, Theeler Brett, Hamilton Jackson, McCutcheon Ian, Fuller Gregory N

出版信息

Clin Neuropathol. 2014 Nov-Dec;33(6):407-11. doi: 10.5414/NP300767.

Abstract

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.

摘要

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。

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