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颗粒细胞瘤的遗传学特征

Genetic characterisation of granular cell tumours.

作者信息

Rickert Christian H, Paulus Werner

机构信息

Institute of Neuropathology, University Hospital Münster, Domagkstr. 19, 48129 Münster, Germany.

出版信息

Acta Neuropathol. 2002 Apr;103(4):309-12. doi: 10.1007/s00401-002-0516-x. Epub 2002 Feb 1.

Abstract

Seven granular cell tumours (GCT) were studied by comparative genomic hybridisation. These consisted of two cerebral and one pituitary GCT as well as four other central nervous system tumours predominantly composed of granular cells (one glioblastoma, meningioma, ganglioglioma and neurinoma each). DNA copy number changes were found in four of seven tumours. Overall, losses (mean: 1.0 per tumour) were more frequent than gains (mean: 0.6 per tumour) and no high-level gains were found. The only DNA copy number change found in two tumours (both cerebral GCT) was loss of 13q21, while the other nine aberrations were only encountered once each: the granular cells of one cerebral GCT additionally showed +1p32-pter, +9q33-qter, +20q, -4, and -18q, of the glioblastoma +7 and -10, and of the meningioma -1p and -22q, while the pituitary GCT, the ganglioglioma and the neurinoma showed no imbalances. Our data suggest that a variety of genetic changes are associated with granular cell formation and support the notion that GCT are not a distinct tumour entity characterised by specific chromosomal imbalances but rather a degenerative phenomenon of cells of various origin showing DNA copy number changes akin to the underlying tumour.

摘要

通过比较基因组杂交技术对七例颗粒细胞瘤(GCT)进行了研究。其中包括两例脑颗粒细胞瘤和一例垂体颗粒细胞瘤,以及另外四例主要由颗粒细胞组成的中枢神经系统肿瘤(分别为一例胶质母细胞瘤、脑膜瘤、神经节胶质瘤和神经鞘瘤)。在七例肿瘤中有四例发现了DNA拷贝数变化。总体而言,缺失(平均每例肿瘤1.0个)比获得(平均每例肿瘤0.6个)更常见,且未发现高水平的获得。在两例肿瘤(均为脑颗粒细胞瘤)中发现的唯一DNA拷贝数变化是13q21缺失,而其他九种畸变各仅出现一次:一例脑颗粒细胞瘤的颗粒细胞还显示+1p32 - pter、+9q33 - qter、+20q、-4和-18q,胶质母细胞瘤显示+7和-10,脑膜瘤显示-1p和-22q,而垂体颗粒细胞瘤、神经节胶质瘤和神经鞘瘤未显示失衡。我们的数据表明,多种基因变化与颗粒细胞形成相关,并支持以下观点:颗粒细胞瘤并非以特定染色体失衡为特征的独特肿瘤实体,而是各种起源细胞的一种退化现象,显示出与潜在肿瘤类似的DNA拷贝数变化。

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