Published online before print July 9, 2007

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Journal of Molecular Diagnostics 2007, Vol. 9, No. 4
Copyright © 2007 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2007.070009

Ewing Sarcoma with Novel Translocation t(2;16) Producing an In-Frame Fusion of FUS and FEV

Tony L. Ng^*, Maureen J. O’Sullivan^*, Catherine J. Pallen, Malcolm Hayes, Paul W. Clarkson, Mark Winstanley^¶, Poul H.B. Sorensen^*||, Torsten O. Nielsen^* and Douglas E. Horsman

From the Department of Pathology and Laboratory Medicine, * University of British Columbia, Vancouver, British Columbia; the Department of Pediatrics, Child and Family Research Institute, University of British Columbia, Vancouver; the Department of Pathology and Laboratory Medicine, British Columbia Cancer Agency, University of British Columbia, Vancouver; the Division of Surgical Oncology, British Columbia Cancer Agency, Vancouver; the Department of Oncology, Hematology and BMT, ^¶ British Columbia Children’s Hospital, Vancouver; and the Department of Molecular Oncology, ^|| British Columbia Cancer Research Centre, University of British Columbia, Vancouver, British Columbia, Canada

Ewing family tumors are molecularly characterized by expression of chimeric transcripts generated by specific chromosomal translocations, most commonly involving fusion of the EWS gene to a member of the ETS family of transcription factors (including FLI1, ERG, ETV1, E1AF, and FEV). Approximately 85% of reported cases of Ewing sarcoma bear an EWS-FLI1 fusion. In rare cases, FUS can substitute for EWS, with translocation t(16;21)(p11;q24) producing a FUS-ERG fusion with no EWS rearrangement. We report a case of Ewing sarcoma, presenting as a pathological fracture of the distal clavicle in a 33-year-old male, in which cytogenetic analysis revealed a single t(2;16)(q35;p11) balanced translocation. Fluorescence in situ hybridization using a commercially available diagnostic probe was negative for an EWS gene rearrangement; instead, break-apart fluorescence in situ hybridization probes for FUS and FEV were positive for a translocation involving these genes. Cloning and sequencing of the breakpoint region demonstrated an in-frame fusion of FUS to FEV. In conclusion, this represents the first reported case of Ewing family tumors demonstrating a variant translocation involving FUS and FEV and highlights the need to consider alternative permutations of fusion partners for molecular diagnosis of sarcomas.

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