title: Identification of EWS/FLI-1 transcripts in giant-cell tumor of bone.
abstract: The EWS/FLI-1 fusion gene, resulting from a t(11;22) translocation, plays a key role in the pathogenesis of Ewing's sarcoma. We demonstrate the presence of EWS/FLI-1 hybrid transcripts also in giant-cell tumor, a bone neoplasm featuring intermediate characteristics between benign and malignant lesions. Chimeric products were detected by semi-nested PCR after 2 cycles of amplification in 13/15 cases of giant-cell tumor, and their presence was confirmed by Southern and Western blots and fluorescence in situ hybridization. Moreover, 3/8 primary cultures of giant-cell tumor showed the same type of hybrid transcript observed in the original tumor sample. Sequencing of PCR products confirmed the presence of EWS and FLI-1 sequences in these products. Detection of EWS/FLI-1 fusion transcripts in giant-cell tumor of bone provides a model for the study of the transforming mechanisms of the EWS/FLI-1 fusion gene in mesenchymal tumors.
authors.affiliation: Laboratorio di Ricerca Oncologica, Dipartimento Goidanich, Istituti Ortopedici Rizzoli, Bologna, Italy. katia.scotland@ior.it
authors.forename: K
authors.initials: K
authors.lastname: Scotlandi
authors.forename: T
authors.initials: T
authors.lastname: Chano
authors.forename: S
authors.initials: S
authors.lastname: Benini
authors.forename: M
authors.initials: M
authors.lastname: Serra
authors.forename: M C
authors.initials: MC
authors.lastname: Manara
authors.forename: V
authors.initials: V
authors.lastname: Cerisano
authors.forename: P
authors.initials: P
authors.lastname: Picci
authors.forename: N
authors.initials: N
authors.lastname: Baldini
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D015139:Blotting, Southern; D015153:Blotting, Western; D001859:Bone Neoplasms / Q000235:genetics* / Q000473:pathology; D005260:Female; D005870:Giant Cell Tumors / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009364:Neoplasm Recurrence, Local; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D051789:Proto-Oncogene Protein c-fli-1; D034802:RNA-Binding Protein EWS; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016415:Sequence Alignment; D012689:Sequence Homology, Nucleic Acid; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C106031:EWS-FLI fusion protein; D015514:Oncogene Proteins, Fusion; D051789:Proto-Oncogene Protein c-fli-1; D034802:RNA-Binding Protein EWS; D014157:Transcription Factors