The EWS-WT1 gene fusion in desmoplastic small round cell tumor.
Desmoplastic small round cell tumor (DSRCT) is a poorly understood neoplasm with distinctive clinical, histologic and immunophenotypic features. It is associated with a novel, specific chromosomal abnormality, t(11;22)(p13;q12) that fuses EWS with WT1 leading to production of a chimeric protein with transcriptional regulatory activity. This chimeric transcription factor has unique DNA-binding properties and regulates expression of specific target genes. Several of these have been identified and their biological role characterized. The dysregulated expression of EWS-WT1 targets contribute to the malignant phenotype of DSRCT and provide valuable insight regarding the molecular mechanisms underlying the development and progression of this distinct translocation associated tumor.
Gerald
William L
WL
Department of Pathology, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA. geraldw@mskcc.org
Haber
Daniel A
DA
D000818:Animals; D006801:Humans; D009369:Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism*; D034802:RNA-Binding Protein EWS / Q000235:genetics; D014157:Transcription Factors / Q000378:metabolism; D025721:WT1 Proteins / Q000235:genetics
C106032:EWS1-WT1 fusion protein, human; D015514:Oncogene Proteins, Fusion; D034802:RNA-Binding Protein EWS; D014157:Transcription Factors; D025721:WT1 Proteins