结节性硬化症相关室管膜下巨细胞星形细胞瘤的发育起源

Developmental origin of subependymal giant cell astrocytoma in tuberous sclerosis complex.

作者信息

Ess Kevin C, Kamp Christine A, Tu Benjamin P, Gutmann David H

机构信息

Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.

出版信息

Neurology. 2005 Apr 26;64(8):1446-9. doi: 10.1212/01.WNL.0000158653.81008.49.

DOI:10.1212/01.WNL.0000158653.81008.49

PMID:15851742

Abstract

Children with tuberous sclerosis complex (TSC) harbor developmental brain abnormalities (cortical tubers) and low-grade tumors (subependymal giant cell astrocytomas [SEGAs]). Using gene expression profiling to identify neuroglial differentiation markers in Tsc1 conditional knockout mice, the authors demonstrate that giant cells of SEGAs aberrantly express similar neuroglial differentiation markers as do cortical tubers. These results suggest that both tubers and SEGAs result from related defects in progenitor cell differentiation during brain development.

摘要

患有结节性硬化症（TSC）的儿童存在发育性脑异常（皮质结节）和低度肿瘤（室管膜下巨细胞星形细胞瘤[SEGAs]）。通过基因表达谱分析来鉴定Tsc1条件性敲除小鼠中的神经胶质分化标志物，作者证明SEGAs的巨细胞异常表达与皮质结节相似的神经胶质分化标志物。这些结果表明，结节和SEGAs均源于脑发育过程中祖细胞分化的相关缺陷。