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成人弥漫性软脑膜胶质神经元肿瘤,伴有限软脑膜累及,无 1p 缺失和 BRAF V600E 突变。

Adult diffuse leptomeningeal glioneuronal tumour with limited leptomeningeal involvement, lack of 1p deletion and BRAF V600E mutation.

机构信息

Department of Radiology, Royal Melbourne Hospital, Parkville, VIC, Australia.

Department of Pathology, Royal Melbourne Hospital, Parkville, VIC, Australia.

出版信息

J Clin Neurosci. 2020 Sep;79:215-218. doi: 10.1016/j.jocn.2020.07.039. Epub 2020 Aug 6.

Abstract

Diffuse leptomeningeal glioneuronal tumours (DLGNT) are rare primary CNS tumours, traditionally characterised by leptomeningeal growth and usually affecting children. A recent large study defined DLGNT on a molecular basis, of which all demonstrated 1p deletions. The vast majority also demonstrated MAPK/ERK pathway activations, however BRAF V600E mutation has not been previously documented in adult cases. In this case report, we describe an unusual cerebral DLGNT, with limited leptomeningeal spread, intact 1p status and a BRAF V600E mutation.

摘要

弥漫性软脑膜神经胶质神经元肿瘤(DLGNT)是一种罕见的原发性中枢神经系统肿瘤,传统上以软脑膜生长为特征,通常影响儿童。最近的一项大型研究从分子基础上对 DLGNT 进行了定义,所有病例均显示 1p 缺失。绝大多数病例还显示 MAPK/ERK 通路激活,但 BRAF V600E 突变以前并未在成人病例中记录。在本病例报告中,我们描述了一例罕见的大脑 DLGNT,其软脑膜扩散有限,1p 状态完整,存在 BRAF V600E 突变。

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