Jeon I S, Davis J N, Braun B S, Sublett J E, Roussel M F, Denny C T, Shapiro D N
Department of Experimental Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee 38101.
Oncogene. 1995 Mar 16;10(6):1229-34.
Most Ewing's sarcomas or related primitive neuroectodermal tumors have the (11;22)(q24;q12) or less frequently the (21;22)(q22;q12) translocation. These rearrangements fuse the EWS gene on chromosome 22q12 to either the FLI1 or ERG genes, both members of the ETS family of transcription factors. Simple variant chromosomal translocations have been occasionally described in these tumors. We have identified a third Ewing's sarcoma translocation, the t(7;22)(p22;q12), that fuses EWS to the human homologue of the murine ETS gene ER81. This gene, designated ETV1 (for ETS Translocation Variant), is located on chromosome band 7p22. Identical EWS nucleotide sequences found in the majority of EWS-FLI1 and EWS-ERG chimeric transcripts are fused to a portion of ETV1 encoding an ETS domain with sequence specific DNA-binding activity. These findings confirm that the fusion of EWS to different ETS family members can result in a similar tumor phenotype.
大多数尤因肉瘤或相关的原始神经外胚层肿瘤具有（11；22）（q24；q12）易位，或较少见的（21；22）（q22；q12）易位。这些重排将22号染色体q12上的EWS基因与ETS转录因子家族的成员FLI1或ERG基因融合。在这些肿瘤中偶尔也描述过简单的变异染色体易位。我们鉴定出了第三种尤因肉瘤易位，即t（7；22）（p22；q12），它将EWS与鼠类ETS基因ER81的人类同源基因融合。该基因命名为ETV1（ETS易位变异体），位于7号染色体p22带。在大多数EWS-FLI1和EWS-ERG嵌合转录本中发现的相同EWS核苷酸序列与ETV1的一部分融合，ETV1的这部分编码具有序列特异性DNA结合活性的ETS结构域。这些发现证实，EWS与不同ETS家族成员的融合可导致相似的肿瘤表型。
