Deng Fang-Ming, Galvan Karen, de la Roza Gustavo, Zhang Shengle, Souid Abdul-Kader, Stein Constance K
Department of Pathology, State University of New York, Upstate Medical University, Syracuse, NY, USA.
Cancer Genet. 2011 Aug;204(8):423-9. doi: 10.1016/j.cancergen.2011.05.006.
We report a soft tissue sarcoma from the thigh with morphologic features resembling Ewing sarcoma, clear cell sarcoma, and myoepithelial tumor of soft tissue. In addition, the genetic and immunohistochemical findings do not correspond to any established pattern, so the tumor does not clearly fit into any one classification. The karyotype analysis revealed a rare chromosomal rearrangement, t(6;22)(p22;q12), that previously has been reported in bone and epithelial tumors. Molecular studies confirmed the presence of an EWSR1-POU5F1 fusion creating a chimeric gene with the N-terminal transcriptional activation domain of EWSR1 and the C-terminal POU DNA binding domain of POU5F1. This report is novel in that to our knowledge, it is the first complete molecular characterization of an EWSR1-POU5F1 fusion in a soft tissue sarcoma. Evaluation of existing data on the known EWSR1-POU5F1 tumors suggests that the fusion gene functions in a wide variety of cell types and may modify the differentiation state of cells, resulting in susceptibility to tumorigenesis.
我们报告了一例来自大腿的软组织肉瘤，其形态学特征类似于尤因肉瘤、透明细胞肉瘤和软组织肌上皮瘤。此外，基因和免疫组化结果不符合任何已确立的模式，因此该肿瘤不能明确归入任何一种分类。核型分析显示一种罕见的染色体重排，t(6;22)(p22;q12)，此前曾在骨肿瘤和上皮性肿瘤中报道过。分子研究证实存在EWSR1-POU5F1融合，形成一个嵌合基因，其具有EWSR1的N端转录激活结构域和POU5F1的C端POU DNA结合结构域。据我们所知，本报告具有新颖性，因为它是软组织肉瘤中EWSR1-POU5F1融合的首次完整分子特征描述。对已知EWSR1-POU5F1肿瘤的现有数据评估表明，该融合基因在多种细胞类型中发挥作用，并可能改变细胞的分化状态，从而导致肿瘤易感性。
