Genes Chromosomes and Cancer · 2005 · 106 citations · 19 references
MedicineMolecular BiologyOncologyCancer GeneticsMolecular OncologyNeoplasiaBone DevelopmentBone TumorsCancer Stem CellsGene Fusions In CancerPrimary Bone SarcomasTranscription Factor OncogenesEwsr1 Gene FusionsPelvic Bone SarcomasSarcoma-associated Fusion GenesTranscription Factor FusionsTranscriptional ActivationTranscriptional Activation DomainsUnbalanced Chromosomal TranslocationUndifferentiated Tumors
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.
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