EWS/FLI-1 fusion signal inserted into chromosome 11 in one patient with morphologic features of Ewing sarcoma, but lacking t(11;22)

Cancer Genet Cytogenet. 2002 Feb;133(1):72-5. doi: 10.1016/s0165-4608(01)00563-5.


A reciprocal t(11;22)(q24;q12) is found in 85% of Ewing sarcomas (ES) cases. We report a case of a child with ES, in whom trisomy 8 was observed as the sole chromosomal abnormality. Fluorescence in situ hybridization---using a set of probes that localize to 22q12 (EWS) and 11q24 (FLI-1) and usually show the translocation as fusion (red-green) signal on der(22)---showed a fusion signal on der(11) suggesting an insertion as the mechanism that led to the EWS-FLI-1 gene rearrangement. Reverse transcriptase-polymerase chain reaction studies revealed the presence of two EWS/FLI1 fusion gene products.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Neoplasms / genetics*
  • Bone Neoplasms / pathology
  • Bone Neoplasms / surgery
  • Child
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 22*
  • Chromosomes, Human, Pair 8*
  • Humans
  • Karyotyping
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Proto-Oncogene Protein c-fli-1
  • RNA-Binding Protein EWS
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sarcoma, Ewing / genetics*
  • Sarcoma, Ewing / pathology
  • Sarcoma, Ewing / surgery
  • Transcription Factors / genetics*
  • Translocation, Genetic*
  • Trisomy*


  • EWS-FLI fusion protein
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Protein c-fli-1
  • RNA-Binding Protein EWS
  • Transcription Factors