title: Fusion genes in angiomatoid fibrous histiocytoma.
abstract: Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor of low malignant potential and uncertain differentiation. Only three genetically investigated cases of AFH have been reported. Two of them displayed a FUS-ATF1 fusion gene and one showed an EWSR1-ATF1 chimera. Using RT-PCR analysis, we have identified the EWSR1-ATF1 fusion transcript, and delineated the genomic breakpoints, in two new cases of AFH. Previously, the EWSR1-ATF1 fusion protein has been suggested to activate expression of the MITF-M transcript, and therefore the expression pattern of the MITF gene was studied. The MITF-M transcript was not detected in either AFH, in line with the finding that the co-activator SOX10 was not expressed. Thus, of the five AFH that have been molecularly analyzed to date, two have displayed a FUS-ATF1 fusion gene and three have shown an EWSR1-ATF1 chimera. There is no apparent correlation between the type of fusion gene and clinicopathologic features. Nonetheless, RT-PCR for these fusion transcripts remains a valuable diagnostic adjunct in the distinction between AFH and other soft tissue tumors or metastases that may simulate it.
authors.affiliation: Department of Clinical Genetics, University Hospital, Lund, Sweden. Karolin.Hansen_Hallor@med.lu.se <Karolin.Hansen_Hallor@med.lu.se>
authors.forename: Karolin H
authors.initials: KH
authors.lastname: Hallor
authors.forename: Francesca
authors.initials: F
authors.lastname: Micci
authors.forename: Jeanne M
authors.initials: JM
authors.lastname: Meis-Kindblom
authors.forename: Lars-Gunnar
authors.initials: LG
authors.lastname: Kindblom
authors.forename: Patrizia
authors.initials: P
authors.lastname: Bacchini
authors.forename: Nils
authors.initials: N
authors.lastname: Mandahl
authors.forename: Fredrik
authors.initials: F
authors.lastname: Mertens
authors.forename: Ioannis
authors.initials: I
authors.lastname: Panagopoulos
mesh_terms: D051697:Activating Transcription Factor 1; D001483:Base Sequence; D001859:Bone Neoplasms / Q000235:genetics / Q000473:pathology; D002148:Calmodulin-Binding Proteins / Q000235:genetics; D002648:Child; D002968:Clavicle; D004268:DNA-Binding Proteins / Q000235:genetics; D051677:Histiocytoma, Malignant Fibrous / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D034802:RNA-Binding Protein EWS; D034702:RNA-Binding Protein FUS / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D000071701:Regulatory Factor X Transcription Factors; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013125:Spinal Neoplasms / Q000235:genetics / Q000473:pathology; D013131:Spine; D014157:Transcription Factors
chemical_list: C531110:ATF1 protein, human; D051697:Activating Transcription Factor 1; D002148:Calmodulin-Binding Proteins; D004268:DNA-Binding Proteins; C500986:EWSR1 protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion; D034802:RNA-Binding Protein EWS; D034702:RNA-Binding Protein FUS; D016601:RNA-Binding Proteins; D000071701:Regulatory Factor X Transcription Factors; D014157:Transcription Factors