另一种尤因肉瘤易位，即t(21;22)，将EWS基因与另一种ETS家族转录因子ERG融合。

A second Ewing's sarcoma translocation, t(21;22), fuses the EWS gene to another ETS-family transcription factor, ERG.

作者信息

Sorensen P H, Lessnick S L, Lopez-Terrada D, Liu X F, Triche T J, Denny C T

机构信息

Department of Pathology and Laboratory Medicine, Childrens Hospital of Los Angeles/University of Southern California 90027.

出版信息

Nat Genet. 1994 Feb;6(2):146-51. doi: 10.1038/ng0294-146.

DOI:10.1038/ng0294-146

PMID:8162068

Abstract

The t(11;22)(q24;q12), present in 85% of Ewing's sarcoma and related tumours, fuses the EWS gene from chromosome 22q12 and the ETS family member, FLI-1. This results in the expression of a chimaeric protein containing the amino-terminal portion of EWS fused to the ETS DNA-binding domain of FLI-1. We have identified a second Ewing's sarcoma translocation, t(21;22)(q22;q12), that fuses EWS to a different ETS family member, the ERG gene located on band 21q22. Identical EWS nucleotide sequences found in the EWS/FLI-1 fusion transcripts are fused to portions of ERG encoding an ETS DNA-binding domain resulting in expression of a hybrid EWS/ERG protein. These findings suggest that fusion of EWS to different members of the ETS family of transcription factor genes may result in the expression of similar disease phenotypes.

摘要

在85%的尤因肉瘤及相关肿瘤中存在的t(11;22)(q24;q12)，使位于22q12的EWS基因与ETS家族成员FLI-1融合。这导致一种嵌合蛋白的表达，该蛋白包含EWS的氨基末端部分与FLI-1的ETS DNA结合结构域融合。我们鉴定出了第二种尤因肉瘤易位，即t(21;22)(q22;q12)，它将EWS与另一个ETS家族成员，即位于21q22带的ERG基因融合。在EWS/FLI-1融合转录本中发现的相同EWS核苷酸序列与编码ETS DNA结合结构域的ERG部分融合，导致杂合EWS/ERG蛋白的表达。这些发现表明，EWS与转录因子基因的ETS家族不同成员融合可能导致相似疾病表型的表达。