Fuller G N, Bigner S H
Department of Pathology, Duke University Medical Center, Durham, NC 27710.
Mutat Res. 1992 May;276(3):299-306. doi: 10.1016/0165-1110(92)90016-3.
Significant advances have recently been made in a number of areas concerning central nervous system (CNS) neoplasia. Particularly salient are the following: (1) gene amplification is related to increasing grade of human glioma malignancy and occurs in approximately 40% of the most common and most malignant variety of glioma, glioblastoma multiforme (GBM), (2) by far the most commonly amplified gene in glioblastomas is the epidermal growth factor receptor (EGFR) gene, which is amplified in about one third of GBMs, (3) a small percentage of GBMs amplify N-myc or the novel sequence gli, (4) the EGFR gene is rearranged in at least half of gliomas in which it is amplified, and (5) EGFR gene rearrangement results in external domain deletions that yield truncated EGF receptors. Antibodies specific for the mutant EGF receptor fusion junction have been successfully produced and provide stimulating new potential avenues for tumor imaging and therapy. For pediatric CNS neoplasms, only medulloblastoma has been investigated in adequate numbers; a small percentage exhibit amplification of either the N-myc or c-myc genes.
近年来，在中枢神经系统（CNS）肿瘤形成的多个领域取得了重大进展。特别突出的有以下几点：（1）基因扩增与人类胶质瘤恶性程度的增加有关，约40%最常见、最恶性的胶质瘤类型，即多形性胶质母细胞瘤（GBM）中会出现基因扩增；（2）胶质母细胞瘤中最常扩增的基因是表皮生长因子受体（EGFR）基因，约三分之一的GBM中该基因会扩增；（3）一小部分GBM会扩增N - myc或新序列gli；（4）EGFR基因在至少一半扩增的胶质瘤中发生重排；（5）EGFR基因重排导致外显子缺失，产生截短的EGF受体。已成功制备出针对突变型EGF受体融合连接点的特异性抗体，为肿瘤成像和治疗提供了令人振奋的新潜在途径。对于儿童中枢神经系统肿瘤，仅对髓母细胞瘤进行了充分研究；一小部分髓母细胞瘤表现出N - myc或c - myc基因的扩增。
