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首页> 外文期刊>Brain pathology >NF2 mutations in secretory and other rare variants of meningiomas.
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NF2 mutations in secretory and other rare variants of meningiomas.

机译:脑膜瘤分泌型和其他罕见变型中的NF2突变。

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摘要

The WHO classification defines different histological variants of meningiomas. Mutations of the tumor suppressor gene NF2 on 22q have been described in 30% to 60 % of sporadic meningiomas. However, the vast majority of the meningiomas that have been subject to NF2 analysis belong to the most frequent variants like transitional, fibroblastic and meningothelial meningiomas. Within these subtypes, transitional and fibroblastic meningiomas harbor significantly more NF2 mutations than meningothelial meningiomas, indicating molecular subsets of these tumors. To determine whether rare meningioma variants carry NF2 mutations we analyzed 80 tumors. NF2 mutations were detected in 5 (36%) of 14 psammomatous, 1 (11%) of 9 angiomatous, 2 (22%) of 9 clear cell, 1 (33%) of 3 chordoid and 1 (100%) of 1 papillary meningioma. In the single papillary meningioma, 2 different NF2 mutations were observed. No NF2 mutations were found in 33 secretory, 7 microcystic, 2 lymphoplasmacyte-rich, one rhabdoid and one metaplastic meningioma. In the control group of 25 fibroblastic meningiomas, 11 cases were identified to carry an NF2 mutation.These results support the concept of different molecular subgroups of meningiomas which overlap with histological variants.
机译:WHO分类定义了脑膜瘤的不同组织学变体。在30%至60%的散发性脑膜瘤中,已经描述了22q处肿瘤抑制基因NF2的突变。但是,已接受NF2分析的绝大多数脑膜瘤属于最常见的变异,如过渡性,成纤维细胞性和脑膜瘤性脑膜瘤。在这些亚型中,过渡性和成纤维细胞性脑膜瘤比脑膜内皮性脑膜瘤具有更多的NF2突变,表明这些肿瘤的分子亚群。为了确定罕见的脑膜瘤变体是否携带NF2突变,我们分析了80个肿瘤。 NF2突变在14个滑膜瘤中有5个(36%),9个血管瘤中1个(11%),9个透明细胞中有2个(22%),3个脉络膜中有1个(33%)和1个乳头状中有1个(100%)脑膜瘤。在单个乳头状脑膜瘤中,观察到2种不同的NF2突变。在33个分泌性,7个微囊性,2个富含淋巴胞质的胞质,1个横纹肌瘤和1个化生性脑膜瘤中未发现NF2突变。在25个成纤维细胞性脑膜瘤的对照组中,鉴定出11个发生NF2突变的病例,这些结果支持了脑膜瘤的不同分子亚组与组织学变异重叠的概念。

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