Chromosomal translocations and fusion genes are very common in human cancer especially in subtypes of sarcomas, such as rhabdomyosarcoma, Ewing's sarcoma, synovial sarcoma and liposarcoma. The discovery of novel chromosomal translocations and fusion genes in different tumors are due to the advancement of next-generation sequencing (NGS) technologies such as whole genome sequencing. Recently, many novel chromosomal translocations and gene fusions have been identified in different types of sarcoma through NGS approaches. In addition to previously known sarcoma fusion genes, these novel specific fusion genes and associated molecular events represent important targets for novel therapeutic approaches in the treatment of sarcomas. This review focuses on recent advances in chromosomal translocations and fusion genes in sarcomas and their potential therapeutic applications in the treatment of sarcomas.

染色体易位和融合基因在人类癌症中非常普遍，特别是在肉瘤的亚型中，例如横纹肌肉瘤，尤因氏肉瘤，滑膜肉瘤和脂肪肉瘤。在不同肿瘤中发现新的染色体易位和融合基因是由于下一代测序（NGS）技术的进步，例如全基因组测序。近来，通过NGS方法已经在不同类型的肉瘤中鉴定出许多新颖的染色体易位和基因融合。除了先前已知的肉瘤融合基因之外，这些新颖的特异性融合基因和相关的分子事件代表了治疗肉瘤的新颖治疗方法的重要靶标。