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EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12)

✍ Scribed by Shuichi Yamaguchi; Yukari Yamazaki; Yuichi Ishikawa; Noriyoshi Kawaguchi; Hiroyuki Mukai; Takuro Nakamura


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
348 KB
Volume
43
Category
Article
ISSN
1045-2257

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✦ Synopsis


Abstract

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 EWSR1POU5F1 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 EWSPOU5F1 may act as an oncogenic transcription factor and that its expression may contribute to undifferentiated and immature phenotypes of BST. © 2005 Wiley‐Liss, Inc.


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