Clear cell sarcoma expressing a novel chimerical transcript EWSR1 exon 7/ATF1 exon 6

Virchows Arch. 2012 Sep;461(3):339-43. doi: 10.1007/s00428-012-1295-y. Epub 2012 Aug 11.

Abstract

Clear cell sarcoma harbours recurrent translocation, resulting in EWSR1/ATF1 or less commonly EWSR1/CREB1 fusion. To date, six types of EWSR1/ATF1 fusion have been reported, of which three are in-frame and encode functional proteins. We present a reverse transcription - polymerase chain reaction analysis of a tumour near the hallux of the right foot. The sequencing of obtained fragments revealed the presence of a novel chimerical transcript-the in-frame fusion between EWSR1 exon 7 and ATF1 exon 6 that represents the fourth in-frame type of EWSR1/ATF1 fusion identified in clear cell sarcomas.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Antineoplastic Combined Chemotherapy Protocols
  • Bone Neoplasms / secondary
  • Exons / genetics
  • Fatal Outcome
  • Hallux
  • Humans
  • Lymphatic Metastasis
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sarcoma, Clear Cell / drug therapy
  • Sarcoma, Clear Cell / genetics*
  • Sarcoma, Clear Cell / secondary
  • Soft Tissue Neoplasms / drug therapy
  • Soft Tissue Neoplasms / genetics*
  • Soft Tissue Neoplasms / pathology
  • Translocation, Genetic

Substances

  • EWSR1-ATF1 fusion protein, human
  • Oncogene Proteins, Fusion