Vortmeyer A O, Gnarra J R, Emmert-Buck M R, Katz D, Linehan W M, Oldfield E H, Zhuang Z
Laboratory of Pathology and Surgery Branch, National Cancer Institute, Bethesda, MD 20892, USA.
Hum Pathol. 1997 May;28(5):540-3. doi: 10.1016/s0046-8177(97)90075-7.
Central nervous system hemangioblastoma is a neoplasm with characteristic and well-described histopathological features, including proliferation of vascular and stromal cells. yet, the histogenesis of the stromal cell component and its neoplastic capacity as compared with the vascular component are still controversial. Stromal cells were selectively procured from formalin-fixed, paraffin-embedded archival tissue from a von Hippel-Lindau (VHL) disease patient with a cerebellar hemangioblastoma and studied for loss of heterozygosity (LOH) of the VHL gene locus and associated microsatellite regions. The stromal cells consistently showed LOH. Analysis of mixed stromal anti vascular areas of this tumor and four other hemangioblastomas of VHL patients showed that loss of heterozygosity was partially obscured. These preliminary results suggest that the stromal component of hemangioblastomas contains genetic alterations consistent with a neoplastic nature. Additional samples of pure stromal cells need to be analyzed to establish the prevalence of VHL gene deletion in stromal cells of capillary hemangioblastoma and, hence, its pathogenetic significance.
中枢神经系统血管母细胞瘤是一种具有特征性且组织病理学特征已得到充分描述的肿瘤，包括血管和基质细胞的增殖。然而，与血管成分相比，基质细胞成分的组织发生及其肿瘤形成能力仍存在争议。从一名患有小脑血管母细胞瘤的冯·希佩尔-林道（VHL）病患者的福尔马林固定、石蜡包埋存档组织中选择性获取基质细胞，并研究VHL基因位点及相关微卫星区域的杂合性缺失（LOH）情况。基质细胞持续显示出杂合性缺失。对该肿瘤以及另外4例VHL病患者的血管母细胞瘤的混合基质抗血管区域进行分析，结果显示杂合性缺失部分被掩盖。这些初步结果表明，血管母细胞瘤的基质成分含有与肿瘤性质一致的基因改变。需要分析更多纯基质细胞样本，以确定毛细血管型血管母细胞瘤基质细胞中VHL基因缺失的发生率，从而确定其发病机制意义。
