Abstract
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
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Bone Neoplasms / genetics*
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Bone Neoplasms / pathology
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Bone Neoplasms / surgery
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Child
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Chromosomes, Human, Pair 11*
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Chromosomes, Human, Pair 22*
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Chromosomes, Human, Pair 8*
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Humans
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Karyotyping
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Male
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Oncogene Proteins, Fusion / genetics*
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Proto-Oncogene Protein c-fli-1
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RNA-Binding Protein EWS
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Reverse Transcriptase Polymerase Chain Reaction
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Sarcoma, Ewing / genetics*
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Sarcoma, Ewing / pathology
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Sarcoma, Ewing / surgery
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Transcription Factors / genetics*
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Translocation, Genetic*
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Trisomy*
Substances
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EWS-FLI fusion protein
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Oncogene Proteins, Fusion
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Proto-Oncogene Protein c-fli-1
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RNA-Binding Protein EWS
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Transcription Factors