title: Primary intracerebral angiomatoid fibrous histiocytoma: report of a case with a t(12;22)(q13;q12) causing type 1 fusion of the EWS and ATF-1 genes.
abstract: Angiomatoid fibrous histiocytoma (AFH) is generally considered a soft tissue sarcoma of low malignant potential that occurs in children/young adults and most frequently affects the extremities. AFH infrequently recurs and rarely metastasizes. AFH has a characteristic histomorphology, and immunohistochemical reactivities for desmin and CD68 have led to myofibroblastic and fibrohistiocytic histogenetic hypotheses, respectively. Although only a limited number of AFH cases have been molecularly characterized, many have demonstrated evidence of an underlying translocation event. Reverse transcription-polymerase chain reaction and fluorescence in situ hybridization studies suggest that chromosomal rearrangement in AFH most frequently involve the EWS, CREB, ATF-1, and FUS genes. We report the first pathologically confirmed case of an AFH presenting as an intracerebral primary in a previously healthy 25-year-old man. Genetic analyses revealed a t(12;22)(q13;q12) and a unique underlying clear cell sarcomalike type 1 EWS/ATF-1 gene fusion.
authors.affiliation: Division of Neuropathology, Washington University School of Medicine, St Louis, MO 63110, USA
authors.forename: Christopher
authors.initials: C
authors.lastname: Dunham
authors.forename: Jerry
authors.initials: J
authors.lastname: Hussong
authors.forename: Michael
authors.initials: M
authors.lastname: Seiff
authors.forename: John
authors.initials: J
authors.lastname: Pfeifer
authors.forename: Arie
authors.initials: A
authors.lastname: Perry
mesh_terms: D051697:Activating Transcription Factor 1; D000328:Adult; D001483:Base Sequence; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D002881:Chromosomes, Human, Pair 12; D002892:Chromosomes, Human, Pair 22; D004268:DNA-Binding Proteins / Q000235:genetics*; D050939:Gene Fusion; D051677:Histiocytoma, Malignant Fibrous / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D034802:RNA-Binding Protein EWS / Q000235:genetics*; D000071701:Regulatory Factor X Transcription Factors; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors; D014178:Translocation, Genetic
chemical_list: C531110:ATF1 protein, human; D051697:Activating Transcription Factor 1; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D034802:RNA-Binding Protein EWS; D000071701:Regulatory Factor X Transcription Factors; D014157:Transcription Factors