Biphenotypic sarcoma with characteristics of both a Ewing sarcoma and a desmoplastic small round cell tumor
Philip M. Rosoff MD,
Sandra Hatcher BS,
Daniel C. West MD,
Corresponding Author
Philip M. Rosoff MD
Division of Hematology-Oncology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina
Division of Pediatric Hematology-Oncology, Duke University Medical Center, Durham, NC 27710Search for more papers by this authorSandra Hatcher BS
Department of Pathology, University of California, Davis, Sacramento, California
Search for more papers by this authorDaniel C. West MD
Department of Pediatrics, University of California, Davis, Sacramento, California
Search for more papers by this authorPhilip M. Rosoff MD,
Sandra Hatcher BS,
Daniel C. West MD,
Corresponding Author
Philip M. Rosoff MD
Division of Hematology-Oncology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina
Division of Pediatric Hematology-Oncology, Duke University Medical Center, Durham, NC 27710Search for more papers by this authorSandra Hatcher BS
Department of Pathology, University of California, Davis, Sacramento, California
Search for more papers by this authorDaniel C. West MD
Department of Pediatrics, University of California, Davis, Sacramento, California
Search for more papers by this authorFirst published: 22 May 2000
Citations: 4
Abstract
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.
Procedure
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. Med. Pediatr. Oncol. 34:407–412, 2000. © 2000 Wiley-Liss, Inc.
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