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From the Departments of Pathology and Microbiology,*
Orthopaedic Surgery,
Pediatrics,
and Preventive and Societal
Medicine,**
University of Nebraska Medical
Center, Omaha, Nebraska; the Department of Orthopaedic
Surgery,§
University of Florida, Gainesville,
Florida; the Department of Orthopaedic
Surgery,¶
Texas Southwestern Hospital, Dallas,
Texas; and the Department of Molecular Cytogenetics,||
University of Utah, Salt Lake City, Utah
Trisomy 8 and trisomy 20 are nonrandom aberrations in desmoid tumors. The presence of these trisomies in related benign fibrous lesions of bone has not been previously addressed. In this study, 22 specimens from 19 patients diagnosed with desmoid tumor, desmoplastic fibroma, periosteal desmoid tumor, osteofibrous dysplasia, or fibrous dysplasia were examined by cytogenetic analysis of short-term cultures and bi-color fluorescence in situ hybridization of cytological touch preparations or paraffin-embedded tissue with centromeric probes for chromosomes 8 and 20. Trisomy 8 and trisomy 20 were detected by molecular cytogenetic methodologies in 15 specimens, including 10 primary bone lesions. Traditional cytogenetic analysis revealed trisomy 8 in two cases of osteofibrous dysplasia. Our findings demonstrate that trisomy 8 and trisomy 20 are also nonrandom aberrations in histologically similar, but clinically distinct, benign fibrous lesions of bone.
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