title: No EWS/FLI1 fusion transcripts in giant-cell tumors of bone.
abstract: Giant-cell tumor of bone (GCT) is a locally aggressive neoplasm of unknown etiology and pathogenesis. Cytogenetically, no consistent chromosomal alterations, apart from telomeric associations involving various chromosome ends, have been described. Recently, however, it was reported that by using highly sensitive nested RT-PCR, a high proportion of GCT displays chimeric EWS/FLI1 fusion transcripts, i.e., the molecular genetic feature previously known to be strongly associated with the Ewing family of tumors. Thus, we decided to perform single-step and nested RT-PCR analyses on fresh frozen samples from 10 cases of GCT, all of which had also been subjected to cytogenetic analysis. After short-term culturing, none of the samples displayed any t(11;22)(q24;q12), the translocation characteristically giving rise to the EWS/FLI1 fusion, nor any other type of rearrangement of 11q24 or 22q12. Furthermore, in none of the cases did the RT-PCR analysis, whether single step or nested, result in products corresponding to a hybrid EWS/FLI1 transcript. On the basis of these results, we conclude that translocations leading to fusion of the EWS and FLI1 genes are not part of the pathogenesis of GCT.
authors.affiliation: Department of Clinical Genetics, Lund University Hospital, Lund, Sweden. ioannis.ganagopoulos@klingen.lu.se
authors.forename: I
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: F
authors.initials: F
authors.lastname: Mertens
authors.forename: H A
authors.initials: HA
authors.lastname: Domanski
authors.forename: M
authors.initials: M
authors.lastname: Isaksson
authors.forename: O
authors.initials: O
authors.lastname: Brosjö
authors.forename: P
authors.initials: P
authors.lastname: Gustafson
authors.forename: N
authors.initials: N
authors.lastname: Mandahl
mesh_terms: D000328:Adult; D001859:Bone Neoplasms / Q000235:genetics*; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D018076:DNA, Complementary / Q000378:metabolism; D005260:Female; D005870:Giant Cell Tumors / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D051789:Proto-Oncogene Protein c-fli-1; D012333:RNA, Messenger / Q000378:metabolism*; D034802:RNA-Binding Protein EWS; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D018076:DNA, Complementary; C106031:EWS-FLI fusion protein; D015514:Oncogene Proteins, Fusion; D051789:Proto-Oncogene Protein c-fli-1; D012333:RNA, Messenger; D034802:RNA-Binding Protein EWS; D014157:Transcription Factors