脉络丛肿瘤的分子遗传学和多样性

IF 3.7 Q1 CLINICAL NEUROLOGY Neuro-oncology advances Pub Date : 2024-07-04 DOI:10.1093/noajnl/vdae101
Christian Thomas, M. Hasselblatt
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引用次数: 0

摘要

脉络丛肿瘤是一种罕见的室管膜内脑肿瘤,主要发生在儿童身上,但也会影响成人。染色体范围内的拷贝数改变和TP53突变确实存在,但在大多数脉络丛肿瘤中,尚未发现驱动突变。在此,我们简要概述脉络丛肿瘤的组织病理学和临床多样性及其遗传和表观遗传异质性。初步数据表明,脉络丛癌至少包括两个表观遗传亚组,其中一个与TP53突变状态有关。这些发现强烈鼓励我们在更大的队列中进一步研究遗传和表观遗传异质性,并将分子亚组状态与临床注释结合起来,以确定预后标志物,这些标志物也可能有助于在未来的国际试验中进行分层。
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Molecular genetics and diversity of choroid plexus tumors
Choroid plexus tumors are rare intraventricular brain tumors predominantly arising in children but also affecting adults. Chromosome-wide copy-number alterations and TP53 mutations do occur, but in most choroid plexus tumors, driver mutations have not been identified. Here we give a brief overview on the histopathological and clinical diversity of choroid plexus tumors and their genetic and epigenetic heterogeneity. Preliminary data indicate that choroid plexus carcinomas comprise at least two epigenetic subgroups, one of which is associated with TP53 mutation status. These findings strongly encourage us to further investigate the genetic and epigenetic heterogeneity in a larger cohort and to align molecular subgroup status with clinical annotations, in order to identify prognostic markers that may also aid stratification within future international trials.
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6.20
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12 weeks
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