EWS/FLI-1 fusion signal inserted into chromosome 11 in one patient with morphologic features of Ewing sarcoma, but lacking t(11;22).
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.
Batanian
Jacqueline R
JR
Department of Pediatrics, Cardinal Glennon Children's Hospital, St. Louis, MO, USA. batanijr@slu.edu
Bridge
Julia A
JA
Wickert
Robert
R
Vogler
Carol
C
Gadre
Bharti
B
Huang
Yufeng
Y
D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002648:Child; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D007621:Karyotyping; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D051789:Proto-Oncogene Protein c-fli-1; D034802:RNA-Binding Protein EWS; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012512:Sarcoma, Ewing / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy
C106031:EWS-FLI fusion protein; D015514:Oncogene Proteins, Fusion; D051789:Proto-Oncogene Protein c-fli-1; D034802:RNA-Binding Protein EWS; D014157:Transcription Factors