Department of Otolaryngology, Hospital La Paz/Autónoma University School of Medicine, IdiPAZ, Pº de la Castellana, 261, 28046 Madrid, Spain.
Eur Arch Otorhinolaryngol. 2013 Sep;270(9):2433-8. doi: 10.1007/s00405-012-2269-z. Epub 2012 Nov 21.
DNA copy gains are a common event in tumor growth. This study determines the gene dosage/amplification of seven tumor-related genes in patients undergoing vestibular schwannoma (VS) surgery and analyzes its clinical implications. Thirty-three patients undergoing surgery for VS were studied. Seven genes (EGFR, ERBB2, ERBB3, ERBB4, MDM2, MDM4, and NMYC) were analyzed by Quantitative real-time PCR. Copy gains were correlated with demographic, clinical and radiological data. Of the 33 samples, 48 % were positive for copy gains in at least one gene. There were no positive samples for gene amplification. A clinical correlation between tumor size and copy gains of ERBB2 was found. Patients with copy gains of this gene had larger tumors measured by diameter (p = 0.027) and volume (p = 0.005). Copy gains of EGFR, ERBB2, ERBB4, and MDM4 were associated with preoperative tinnitus. Contrary to other tumors of the central nervous system, development of VS does not appear to involve gene amplification. However, copy gains of certain tumor-related genes may play a role in the biological behavior of these neoplasms. Our findings support the role of ERBB2 in VS development and growth.
DNA 拷贝数增加是肿瘤生长中的常见事件。本研究旨在确定接受前庭神经鞘瘤（VS）手术患者中七种与肿瘤相关基因的基因剂量/扩增情况，并分析其临床意义。对 33 例行 VS 手术的患者进行了研究。通过定量实时 PCR 分析了七个基因（EGFR、ERBB2、ERBB3、ERBB4、MDM2、MDM4 和 NMYC）。拷贝数增加与人口统计学、临床和影像学数据相关。在 33 个样本中，有 48%的样本至少有一种基因存在拷贝数增加。没有发现基因扩增的阳性样本。发现肿瘤大小与 ERBB2 拷贝数增加之间存在临床相关性。该基因拷贝数增加的患者肿瘤直径（p=0.027）和体积（p=0.005）均较大。EGFR、ERBB2、ERBB4 和 MDM4 的拷贝数增加与术前耳鸣有关。与中枢神经系统的其他肿瘤不同，VS 的发生似乎不涉及基因扩增。然而，某些与肿瘤相关基因的拷贝数增加可能在这些肿瘤的生物学行为中发挥作用。我们的研究结果支持 ERBB2 在 VS 发生和生长中的作用。
