EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12).
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.
Yamaguchi
Shuichi
S
Department of Carcinogenesis, The Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan.
Yamazaki
Yukari
Y
Ishikawa
Yuichi
Y
Kawaguchi
Noriyoshi
N
Mukai
Hiroyuki
H
Nakamura
Takuro
T
D019677:Artificial Gene Fusion; D001483:Base Sequence; D001859:Bone Neoplasms / Q000235:genetics*; D002148:Calmodulin-Binding Proteins / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22; D002896:Chromosomes, Human, Pair 6; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D050814:Octamer Transcription Factor-3; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
D002148:Calmodulin-Binding Proteins; D017931:DNA Primers; D004268:DNA-Binding Proteins; C500986:EWSR1 protein, human; D050814:Octamer Transcription Factor-3; C494173:POU5F1 protein, human; D034802:RNA-Binding Protein EWS; D016601:RNA-Binding Proteins; D014157:Transcription Factors