尤文肉瘤家族肿瘤染色体易位及靶向治疗的研究进展.pdfVIP

748 　　肿瘤2013 年8 月第33 卷第8 期　TUM OR Vol. 33, August 2013 DOI: 10.3781/j .issn.1000-7431.2013.08.016 Copyright© 2013 by TUM OR Review 综述 · 尤文肉瘤家族肿瘤染色体易位及靶向治疗的研究进展 汪红胜，孙梦熊，华莹奇，蔡郑东 同济大学附属第十人民医院骨科，上海　200072 [摘要]　许多骨与软组织肿瘤中存在染色体易位的现象，其中对尤文肉瘤家族肿瘤 （Ewing sarcoma family of tumors ，ESFT ）中染色体易位的研究最早且最为深入。约85% 左右的ESFT 患者存在t （11; 22 ）（q24; q12 ）染 色体易位，由其编码的融合蛋白EW S/FLI1 是导致ESFT 发生和发展的关键因素。因此，对EW S/FLI1 进一步研 究可以为ESFT 的诊断、治疗和预后等提供新的靶点。本文结合近几年的最新报道，对EW S/FLI1 在ESFT 发生 和发展中的作用机制以及靶向治疗等方面的最新进展做一综述。 [关键词]　肉瘤，Ewing ；易位，遗传；基因疗法；癌基因蛋白质类，融合；EW S/FLI1；ESFT [中图分类号]　R738.6 [文献标志码] A [文章编号]　1000-7431 (2013) 08-0748-05 Advances in chromosomal translocation and targeted therapy in Ewing sarcoma family of tumors WANG Hong-sheng, SUN Meng-xiong, HUA Ying-qi, CAI Zheng-dong Department of Orthopedics, Tenth People’s Hospital Affiliated to Tongji University, Shanghai 200072, China [A BSTRACT]　Chromosomal translocation exists in various of bone and soft tissue sarcomas, especially in ESFTs (Ewing sarcoma family of tumors). Approximately 85% of ESFTs carry a t(11;22)(q24;q12) chromosomal translocation, which generates the fusion of the 5’ segment of EWS gene with the 3’ segment of FLI 1 gene. The resultant EWS/FLI1 fusion protein promotes oncongenesis by altering the expression of its target genes, and it is necessary for the progression of ESFTs. Therefore, EWS/FLI1 has been a new target for studies on the diagnosis, treatment modality and prognosis of ESFTs. This review summarizes recent progress in research on EWS/FLI1 mechanism during the initiation and progression of ESFTs and its targeted therapy. [KEY WORDS]　Sarcoma, Ewing’s; Translocation, genetic; Gene therapy; Oncogene proteins, fusion; EWS/ FLI1