Yamaguchi Shuichi, Yamazaki Yukari, Ishikawa Yuichi, Kawaguchi Noriyoshi, Mukai Hiroyuki, Nakamura Takuro
Department of Carcinogenesis, The Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan.
Genes Chromosomes Cancer. 2005 Jun;43(2):217-22. doi: 10.1002/gcc.20171.
POU5F1(OCT3/4) is a sequence-specific transcription factor that is essential for keeping germ cells and embryonic stem cells in an immature and pluripotent status. In this article, we report that POU5F1 was fused to EWSR1 in a case of undifferentiated sarcoma derived from pelvic bone with chromosomal translocation t(6;22)(p21;q12). The EWSR1-POU5F1 chimera consists of exons 1-6 of EWSR1 and exons 2-5 and a part of exon 1 of POU5F1. The predicted amino acid sequence indicates that the chimera is composed of the N-terminal QSY domain of EWS that functions as a transcriptional activation domain and the C-terminal POU DNA-binding domains derived from POU5F1. The t(6;22) tumor does not belong to any known categories of bone and soft-tissue tumors (BSTs). It is suggested that EWS-POU5F1 may act as an oncogenic transcription factor and that its expression may contribute to undifferentiated and immature phenotypes of BST.
POU5F1（OCT3/4）是一种序列特异性转录因子，对于维持生殖细胞和胚胎干细胞处于未成熟和多能状态至关重要。在本文中，我们报告了在一例源自骨盆骨的伴有染色体易位t(6;22)(p21;q12)的未分化肉瘤病例中，POU5F1与EWSR1融合。EWSR1-POU5F1嵌合体由EWSR1的外显子1-6以及POU5F1的外显子2-5和外显子1的一部分组成。预测的氨基酸序列表明，该嵌合体由EWS的N端QSY结构域（作为转录激活结构域发挥作用）和源自POU5F1的C端POU DNA结合结构域组成。t(6;22)肿瘤不属于任何已知的骨与软组织肿瘤（BST）类别。提示EWS-POU5F1可能作为一种致癌转录因子，其表达可能导致BST的未分化和未成熟表型。
