Huynh D P, Mautner V, Baser M E, Stavrou D, Pulst S M
Neurogenetics Laboratory, CSMC Burns and Allen Research Institute, UCLA School of Medicine 90048, USA.
J Neuropathol Exp Neurol. 1997 Apr;56(4):382-90. doi: 10.1097/00005072-199704000-00007.
In addition to schwannomas, patients with neurofibromatosis type 2 (NF2) frequently develop meningiomas and occasionally, ependymomas. Using DNA and protein analyses, we have shown NF2 gene mutations and lack of the gene product schwannomin in 29 schwannomas, 10 meningiomas, and in 7 ependymomas. We have raised antibodies (ABs) to peptides from the C-terminal (5990-AB) and N-terminal (5991-AB) domains of schwannomin. The ABs specifically detected a 65 kDa protein in a Schwann cell line and recognized schwannomin in the cytoplasm of Schwann cells (SCH), perineurial cells, and vestibular ganglion neurons. None of the 29 schwannomas were stained by the 5990-AB. Only 4 schwannomas were stained by the 5991-AB, indicating that most truncated schwannomins were unstable or not expressed in schwannomas. Seven of 10 meningiomas, including 3 tumors from NF2 patients, were not stained by either 5990-AB or 5991-AB. Only 2 of 7 ependymomas lacked schwannomin. Complete lack of schwannomin in these tumors supports a tumor suppressor function for schwannomin in some meningiomas and ependymomas. All tumors showed staining with an antibody to a C-terminal peptide of neurofibromin, confirming that full-length neurofibromin is present in these vestibular schwannomas, meningiomas, and ependymomas. The presence of schwannomin in some meningiomas and in the majority of ependymomas indicates that additional genes are likely to play a role in tumorigenesis of these tumors.
除了施万细胞瘤外,2型神经纤维瘤病(NF2)患者还经常发生脑膜瘤,偶尔也会发生室管膜瘤。通过DNA和蛋白质分析,我们在29例施万细胞瘤、10例脑膜瘤和7例室管膜瘤中发现了NF2基因突变以及基因产物施万蛋白缺失。我们制备了针对施万蛋白C末端(5990-AB)和N末端(5991-AB)结构域肽段的抗体。这些抗体在施万细胞系中特异性检测到一种65 kDa的蛋白质,并在施万细胞(SCH)、神经束膜细胞和前庭神经节神经元的细胞质中识别出施万蛋白。29例施万细胞瘤中无一被5990-AB染色。只有4例施万细胞瘤被5991-AB染色,这表明大多数截短的施万蛋白在施万细胞瘤中不稳定或未表达。10例脑膜瘤中有7例,包括3例来自NF2患者的肿瘤,未被5990-AB或5991-AB染色。7例室管膜瘤中只有2例缺乏施万蛋白。这些肿瘤中施万蛋白的完全缺失支持了施万蛋白在某些脑膜瘤和室管膜瘤中具有肿瘤抑制功能。所有肿瘤用抗神经纤维瘤蛋白C末端肽段的抗体染色均呈阳性,证实这些前庭神经鞘瘤、脑膜瘤和室管膜瘤中存在全长神经纤维瘤蛋白。一些脑膜瘤和大多数室管膜瘤中存在施万蛋白,这表明其他基因可能在这些肿瘤的发生中起作用。