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EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12)
Author(s) -
Yamaguchi Shuichi,
Yamazaki Yukari,
Ishikawa Yuichi,
Kawaguchi Noriyoshi,
Mukai Hiroyuki,
Nakamura Takuro
Publication year - 2005
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20171
Subject(s) - exon , chromosomal translocation , biology , induced pluripotent stem cell , transcription factor , pou domain , embryonic stem cell , microbiology and biotechnology , gene , genetics , homeobox
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. © 2005 Wiley‐Liss, Inc.