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巨细胞性室管膜瘤的特征是存在多种染色体单体缺失。

Multiple chromosomal monosomies are characteristic of giant cell ependymoma.

机构信息

Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, 0310 Oslo, Norway.

出版信息

Hum Pathol. 2011 Dec;42(12):2042-6. doi: 10.1016/j.humpath.2011.02.012. Epub 2011 Jun 17.

Abstract

Giant cell ependymoma, a rare ependymoma subtype, was recently recognized as a separate diagnostic entity with variations both in malignant potential and course of disease. We analyzed the first supratentorial giant cell ependymoma using G-band karyotyping, DNA ploidy analysis, and array comparative genomic hybridization. The tumor was hypodiploid, and the karyotype showed multiple monosomies. This novel cytogenetic pattern seems specific for giant cell ependymoma as the only previous cytogenetic analysis of a giant cell ependymoma found similar monosomies. We were also able to analyze cytogenetically the subsequent recurrent tumor, phenotypically an anaplastic ependymoma, allowing a first insight into the genetic events involved in disease progression.

摘要

巨细胞室管膜瘤是一种罕见的室管膜瘤亚型,最近被认为是一种独立的诊断实体,其恶性潜能和疾病过程存在差异。我们使用 G 带核型分析、DNA 倍体分析和阵列比较基因组杂交分析了首例幕上巨细胞室管膜瘤。肿瘤呈亚二倍体,核型显示多个单体性。这种新型细胞遗传学模式似乎是巨细胞室管膜瘤所特有的,因为之前对巨细胞室管膜瘤的唯一细胞遗传学分析发现了类似的单体性。我们还能够对随后复发的肿瘤进行细胞遗传学分析,表型上为间变性室管膜瘤,这使我们首次深入了解疾病进展涉及的遗传事件。

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