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神经心理学衰退预示着一名患有双侧丘脑胶质瘤的小男孩的肿瘤进展。

Neuropsychological Deterioration Predicts Tumor Progression in a Young Boy With Bithalamic Glioma.

作者信息

Peruzzi Laura, Iuvone Laura, Ruggiero Antonio, Colosimo Cesare, Stefanini Maria Chiara, Riccardi Riccardo

机构信息

a Don Gnocchi Foundation , Milan , Italy.

b Division of Pediatric Oncology , Catholic University of Rome , Rome , Italy.

出版信息

Appl Neuropsychol Child. 2016;5(1):76-81. doi: 10.1080/21622965.2014.960566. Epub 2015 Feb 4.

DOI:10.1080/21622965.2014.960566
PMID:25650783
Abstract

A description is given of the clinical, neuropsychological, and neuroimaging evolution of a 12-year-old boy (CG) who presented with bilateral thalamic astrocytoma (World Health Organization Grade 2). CG underwent an extensive neuropsychological assessment immediately after biopsy prior to any medical therapies and was followed up for 3 years until death. Neuropsychological functioning was thoroughly investigated by means of a detailed battery that included intelligence and cognitive functions. Evolution was characterized by cognitive deterioration that preceded neuroimaging signs of tumor progression. Starting from normal cognitive organization, the child exhibited visuospatial memory deficits and, afterward, diffuse cognitive impairment. The role of neuropsychological assessment in detecting early disease progression is discussed, mainly for rare pathologies whose evolution may be extremely variable.

摘要

本文描述了一名12岁男孩(CG)的临床、神经心理学和神经影像学演变情况,该男孩患有双侧丘脑星形细胞瘤(世界卫生组织2级)。CG在活检后且未进行任何医学治疗之前立即接受了广泛的神经心理学评估,并随访3年直至死亡。通过包括智力和认知功能的详细测试组合对神经心理功能进行了全面调查。其演变特征为在肿瘤进展的神经影像学迹象出现之前就出现认知衰退。从正常的认知结构开始,该儿童先是出现视觉空间记忆缺陷,随后出现弥漫性认知障碍。本文讨论了神经心理学评估在检测疾病早期进展中的作用,主要针对那些演变情况可能极具变异性的罕见病症。

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Pediatric bithalamic gliomas have a distinct epigenetic signature and frequent EGFR exon 20 insertions resulting in potential sensitivity to targeted kinase inhibition.小儿双侧丘脑胶质瘤具有独特的表观遗传特征和高频的 EGFR 外显子 20 插入,从而可能对靶向激酶抑制敏感。
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