Biphenotypic sarcoma with characteristics of both a Ewing sarcoma and a desmoplastic small round cell tumor.
BACKGROUND
The EWS gene, a transcription factor of unknown function, is involved in chromosomal translocations associated with a wide variety of tumors, particularly small round blue cell tumors such as Ewing sarcoma. It has previously been reported that desmoplastic small round blue cell tumor (DSRBCT) frequently has an associated t(11;22) abnormality resulting from fusion of the EWS and WT-1 genes.


METHODS
We report a case of a small round blue cell tumor with characteristics of both Ewing sarcoma and DSRBCT with a t(11;22) translocation leading to fusion of the EWS and FLI1genes.


RESULTS
The translocation point and fusion products were confirmed by polymerase chain reaction amplification and restriction fragment mapping of the products.


CONCLUSIONS
The biphenotypic nature of this case and the apparent promiscuity of the EWS gene in tumor-associated translocations coupled with other reports of biphenotypic childhood sarcomas has potential implications for the relationship between small round blue cell tumors and the mechanism of EWS/FLI1 oncogenesis.
Rosoff
P M
PM
Division of Hematology-Oncology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA. rosof001@mc.duke.edu
Hatcher
S
S
West
D C
DC
D018288:Carcinoma, Small Cell / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D018222:Desmoid Tumors / Q000235:genetics / Q000473:pathology; D006801:Humans; D010641:Phenotype; D010784:Photomicrography; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012509:Sarcoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D012512:Sarcoma, Ewing / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D014057:Tomography, X-Ray Computed; D014178:Translocation, Genetic