在一名患有冯·希佩尔-林道病的患者中，脑膜瘤显示VHL基因失活。

Meningioma showing VHL gene inactivation in a patient with von Hippel-Lindau disease.

作者信息

Kanno H, Yamamoto I, Yoshida M, Kitamura H

机构信息

Department of Neurosurgery, Yokohama City University School of Medicine, Japan.

出版信息

Neurology. 2003 Apr 8;60(7):1197-9. doi: 10.1212/01.wnl.0000055866.64240.2e.

DOI:10.1212/01.wnl.0000055866.64240.2e

PMID:12682336

Abstract

The genetic mechanism of the tumorigenesis of meningioma in conjunction with von Hippel-Lindau (VHL) disease is unclear. The authors present a case of VHL disease associated with a posterior fossa meningioma and with multiple cerebellar hemangioblastomas. A germline mutation of the VHL gene and loss of heterozygosity on the VHL gene locus in 3p were detected in the meningioma. Tumorigenesis of a meningioma associated with VHL disease could be caused by inactivation of both alleles of the VHL gene.

摘要

脑膜瘤与冯·希佩尔-林道（VHL）病并发时的肿瘤发生遗传机制尚不清楚。作者报告了1例VHL病合并后颅窝脑膜瘤及多发小脑成血管细胞瘤的病例。在该脑膜瘤中检测到VHL基因的种系突变以及3p上VHL基因位点的杂合性缺失。VHL病相关脑膜瘤的肿瘤发生可能是由VHL基因的两个等位基因失活所致。