Pediatric and Developmental Pathology

, Volume 2, Issue 2, pp 188–192

Variant EWS-WT1 Chimeric Product in the Desmoplastic Small Round Cell Tumor

  • Agnes S.  Chan
  • Sue  MacNeill
  • Paul  Thorner
  • Jeremy  Squire
  • Maria  Zielenska

DOI: 10.1007/s100249900108

Cite this article as:
Chan, A., MacNeill, S., Thorner, P. et al. Pediatr. Dev. Pathol. (1999) 2: 188. doi:10.1007/s100249900108

ABSTRACT

Chromosome translocations found in neoplasms often result in the creation of hybrid genes encoding chimeric proteins. Desmoplastic small round cell tumor (DSRCT) is a recently described aggressive malignancy associated with a unique chromosomal translocation t(11;22)(p13;q12). This translocation has recently been characterized, revealing the rearrangement and fusion of the WT1 gene on chromosome 11 to the EWS gene on chromosome 22. Fusion of these two genes results in the production of a putative oncogenic protein composed of the zinc finger DNA-binding domains of WT1 linked to the potential transcriptional regulatory domains of EWS. The typical chimeric transcript consists of the first 7 exons of EWS and the last 3 exons of WT1. We report here the first case of DSRCT with a variant EWS-WT1 chimeric product that includes 9 exons of EWS and 3 exons of WT1.

Key words: desmoplastic small round cell tumor, variant EWS-WT1 chimeric product, translocation, chromosome 11, chromosome 22

Copyright information

© Springer-Verlag New York Inc. 1999

Authors and Affiliations

  • Agnes S.  Chan
    • 1
  • Sue  MacNeill
    • 1
  • Paul  Thorner
    • 1
  • Jeremy  Squire
    • 2
  • Maria  Zielenska
    • 1
  1. 1.Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8 CA
  2. 2.Department of Oncologic Pathology, The Ontario Cancer Institute, 610 University Avenue, Toronto, Ontario, Canada M5G 2M9 CA
  3. 3.Graduate Department of Cellular and Molecular Pathology, University of Toronto, Toronto, Ontario, Canada M5G 1L5 CA