Hartmann Christian, Sieberns Jennifer, Gehlhaar Claire, Simon Matthias, Paulus Werner, von Deimling Andreas
Department of Neuropathology, Charité, Universitätsmedizin Berlin, Germany.
Brain Pathol. 2006 Jan;16(1):15-9. doi: 10.1111/j.1750-3639.2006.tb00557.x.
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.
世界卫生组织（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，已发现22号染色体上肿瘤抑制基因NF2的突变。然而，绝大多数接受NF2分析的脑膜瘤属于最常见的变体，如过渡型、纤维母细胞型和脑膜皮型脑膜瘤。在这些亚型中，过渡型和纤维母细胞型脑膜瘤比脑膜皮型脑膜瘤携带更多的NF2突变，表明这些肿瘤存在分子亚群。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。在14个砂粒体型脑膜瘤中有5个（36%）检测到NF2突变，9个血管瘤型脑膜瘤中有1个（11%），9个透明细胞型脑膜瘤中有2个（22%），3个脊索样脑膜瘤中有1个（33%），1个乳头状脑膜瘤中有1个（100%）检测到NF2突变。在单个乳头状脑膜瘤中，观察到2种不同的NF2突变。在33个分泌型、7个微囊型、2个富含淋巴细胞浆细胞型、1个横纹肌样型和1个化生型脑膜瘤中未发现NF2突变。在25个纤维母细胞型脑膜瘤的对照组中，有11例被鉴定携带NF2突变。这些结果支持了脑膜瘤不同分子亚群的概念，这些亚群与组织学变体重叠。
