Molecular variants of the EWS-WT1 gene fusion in desmoplastic small round cell tumor Journal Article

  


Authors: Antonescu, C. R.; Gerald, W. L.; Magid, M. S.; Ladanyi, M.
Article Title: Molecular variants of the EWS-WT1 gene fusion in desmoplastic small round cell tumor
Abstract: We report two cases of desmoplastic small round cell tumor (DSRCT) with novel molecular variants of the specific EWS-WT1 gene fusion. This fusion usually encodes a chimeric RNA with an in-frame junction of exon 7 of EWS to exon 8 of WT1. In one variant patient, the EWS-WT1 fusion transcript contained an in-frame junction of exon 9 of EWS to exon 8 of WT1. Moreover, in this patient the tumor arose in the hand, an extremely unusual site for DSRCT. In the second patient, an in-frame junction of exon 10 of EWS to exon 8 of WT1 was present. These two cases of DSRCT show that the molecular variability in the EWS breakpoint observed in the EWS-FLI1 fusion of Ewing's sarcoma can occur in DSRCT as well. This type of heterogeneity is relevant to the interpretation of molecular diagnostic assays and could also affect the functional properties of the encoded chimeric transcription factors.
Keywords: adolescent; adult; bone neoplasms; exon; case report; transcription factor; ewing sarcoma; sarcoma; rna; oncogene; gene fusion; oncogene proteins, fusion; translocation, genetic; lymphadenopathy; soft tissue neoplasms; nephroblastoma; small cell carcinoma; mediastinum lymph node; carcinoma, small cell; translocation; hand tumor; rearrangement; fingers; humans; human; male; female; priority journal; article; fibroma, desmoplastic
Journal Title: Diagnostic Molecular Pathology
Volume: 7
Issue: 1
ISSN: 1052-9551
Publisher: Lippincott Williams & Wilkins  
Date Published: 1998-02-01
Start Page: 24
End Page: 28
Language: English
DOI: 10.1097/00019606-199802000-00005
PUBMED: 9646031
PROVIDER: scopus
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-0031802902&doi=10.1097%2f00019606-199802000-00005&partnerID=40&md5=1faf6cb4e0f14ccf806cd77bf304ffb4
Notes: Article -- Export Date: 12 December 2016 -- Source: Scopus
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MSK Authors
  1. Cristina R Antonescu
    897 Antonescu
  2. William L Gerald
    375 Gerald
  3. Marc Ladanyi
    1328 Ladanyi
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