Royal Marsden Hospital, London, UK.
Histopathology. 2014 Jan;64(1):134-50. doi: 10.1111/his.12269. Epub 2013 Nov 6.
Many soft tissue sarcomas have chromosomal translocations with resultant formation of new fusion genes. Among the genes that can be rearranged, the EWSR1 gene has been identified as a partner in a wide variety of clinically and pathologically diverse sarcomas as well as some non-mesenchymal tumours. The former include Ewing sarcoma and similar (Ewing-like) small round cell sarcomas, desmoplastic small round cell tumour, myxoid liposarcoma, extraskeletal myxoid chondrosarcoma, angiomatoid fibrous histiocytoma, clear cell sarcoma of soft tissue and clear cell sarcoma-like tumours of the gastrointestinal tract, primary pulmonary myxoid sarcoma, extrasalivary myoepithelial tumours and sporadic examples of low-grade fibromyxoid sarcoma, sclerosing epithelioid fibrosarcoma and mesothelioma. EWSR1 is a 'promiscuous' gene that can fuse with many different partner genes, but sometimes this results in phenotypically identical tumours. EWSR1 can, conversely, partner with the same genes in morphologically and behaviourally different neoplasms. This paper reviews the diversity of the several soft tissue tumour types that are associated with rearrangement of the EWSR1 gene.
许多软组织肉瘤具有染色体易位，导致新的融合基因形成。在可重排的基因中，EWSR1 基因已被确定为广泛存在于临床和病理多样化的肉瘤以及一些非间叶性肿瘤中的伙伴基因。前者包括尤因肉瘤和类似的（尤因样）小圆细胞肉瘤、促结缔组织增生性小圆细胞肿瘤、黏液样脂肪肉瘤、骨外黏液样软骨肉瘤、血管样纤维组织细胞瘤、软组织透明细胞肉瘤和胃肠道透明细胞肉瘤样肿瘤、原发性肺黏液样肉瘤、涎腺外肌上皮肿瘤以及散发性低度纤维黏液样肉瘤、硬化性上皮样纤维肉瘤和间皮瘤。EWSR1 是一个“滥交”基因，可以与许多不同的伙伴基因融合，但有时这会导致表型相同的肿瘤。相反，EWSR1 可以与形态和行为不同的肿瘤中的相同基因伙伴。本文综述了与 EWSR1 基因重排相关的几种软组织肿瘤类型的多样性。
