Dunn T, Praissman L, Hagag N, Viola M V
Department of Medicine, State University of New York at Stony Brook 11794.
Cancer Genet Cytogenet. 1994 Aug;76(1):19-22. doi: 10.1016/0165-4608(94)90063-9.
Ewing's sarcoma (ES) and related neoplasias are characterized by the reciprocal translocation, t(11;22)(q24;q12). The translocation has been reported to generate a fusion gene between the EWS (a previously undescribed gene on chromosome 22) and FLI1 genes. We report a similar translocation of EWS and FLI1 in an Askin's tumor cell line (SK-NM-C). Further, we describe an alternative translocation in an ES cell line (#5838) in which the 5' end of the EWS gene is juxtaposed to the 3' end of the ERG gene. The ERG gene is on chromosome 21, but no microscopically visible changes in chromosome 21 were observed. Elevated steady state levels of the EWS/ERG fusion gene transcript were detected in the #5838 cell line. This is the first report of a structural alteration of ERG in human cancer. Also, it confirms a general mechanism of generating putative oncogenic fusion genes by placing an ETS DNA binding domain in direct proximity to the carboxy terminus domain (CTD) related region of the EWS gene.
尤因肉瘤（ES）及相关肿瘤的特征是发生相互易位，即t(11;22)(q24;q12)。据报道，这种易位会在EWS（22号染色体上一个先前未描述的基因）和FLI1基因之间产生一个融合基因。我们在阿斯基恩瘤细胞系（SK-NM-C）中报道了EWS和FLI1的类似易位。此外，我们描述了在一个ES细胞系（#5838）中发生的另一种易位，其中EWS基因的5'端与ERG基因的3'端并列。ERG基因位于21号染色体上，但未观察到21号染色体有显微镜下可见的变化。在#5838细胞系中检测到EWS/ERG融合基因转录本的稳态水平升高。这是人类癌症中ERG结构改变的首次报道。此外，它证实了通过将ETS DNA结合结构域直接置于与EWS基因的羧基末端结构域（CTD）相关区域附近来产生推定致癌融合基因的一般机制。
