Joseph J T, Lisle D K, Jacoby L B, Paulus W, Barone R, Cohen M L, Roggendorf W H, Bruner J M, Gusella J F, Louis D N
Molecular Neuro-Oncology Laboratory, Massachusetts General Hospital, Boston, USA.
Am J Pathol. 1995 Nov;147(5):1450-5.
The histogenesis of dural-based or "central" hemangiopericytomas (cHPCs) remains controversial. Some authors consider these tumors variants of meningiomas while others consider them akin to peripheral hemangiopericytomas (pHPCs). Meningiomas frequently have mutations in the neurofibromatosis 2 (NF2) gene, providing a molecular marker for meningiomas and other NF2-related tumors. We therefore analyzed the NF2 gene in cHPCs, pHPCs, and meningiomas to determine whether cHPCs are more similar at the molecular genetic level to meningiomas or pHPCs. Using paraffin-embedded archival material from 28 cHPCs (including three primary and recurrent tumors), 10 pHPCs, and 26 meningiomas, we scanned all 17 exons of the NF2 gene and flanking intronic sequences for mutations with single strand conformation polymorphism analysis and DNA sequencing. No NF2 mutations were found in either cHPCs or pHPCs, whereas 35% of meningiomas had NF2 gene alterations (P < 0.001). The NF2 gene mutations in meningiomas were all truncating mutations, consistent with previous studies. Our findings suggest that cHPCs are distinct from meningiomas at the molecular genetic level and support prior clinico-pathological data that distinguish these tumor-entities.
基于硬脑膜的或“中枢性”血管外皮细胞瘤（cHPCs）的组织发生仍存在争议。一些作者认为这些肿瘤是脑膜瘤的变体，而另一些作者则认为它们类似于外周血管外皮细胞瘤（pHPCs）。脑膜瘤经常在神经纤维瘤病2（NF2）基因中发生突变，这为脑膜瘤和其他NF2相关肿瘤提供了一种分子标志物。因此，我们分析了cHPCs、pHPCs和脑膜瘤中的NF2基因，以确定cHPCs在分子遗传学水平上与脑膜瘤还是pHPCs更相似。我们使用来自28例cHPCs（包括3例原发和复发性肿瘤）、10例pHPCs和26例脑膜瘤的石蜡包埋存档材料，通过单链构象多态性分析和DNA测序扫描NF2基因的所有17个外显子及其侧翼内含子序列以寻找突变。在cHPCs和pHPCs中均未发现NF2突变，而35%的脑膜瘤有NF2基因改变（P < 0.001）。脑膜瘤中的NF2基因突变均为截短突变，与先前的研究一致。我们的研究结果表明，cHPCs在分子遗传学水平上与脑膜瘤不同，并支持先前区分这些肿瘤实体的临床病理数据。
