title: Genetic characterization of angiomatoid fibrous histiocytoma identifies fusion of the FUS and ATF-1 genes induced by a chromosomal translocation involving bands 12q13 and 16p11.
abstract: This case report documents the first karyotypic, fluorescence in situ hybridization, and genetic analysis of an angiomatoid fibrous histiocytoma that arose and recurred in the arm of a 5.5-year-old girl. Complex rearrangements between chromosomes 2, 12, 16, and 17 were noted, as well as deletion in the long arm of chromosome 11. Flow cytometry revealed a normal cell population. The t(12;16) site was further investigated using reverse transcriptase-polymerase chain reaction. We found that the FUS (also known as TLS) gene from 16p11 combined with the ATF-1 gene from 12q13 to generate a chimeric FUS/ATF-1. The FUS gene is rearranged in the t(12;16)(q13;p11) that characterizes myxoid liposarcoma and in acute myeloid leukemia with t(16;21)(p11;q22), while the ATF-1 gene is rearranged in the t(12;22)(q13;q12) found recurrently in clear cell sarcomas (malignant melanoma of soft parts). Thus, the FUS/ATF-1 gene in angiomatoid fibrous histiocytoma is predicted to code for a protein that is very similar to the chimeric EWS/ATF-1 found in clear cell sarcoma.
authors.affiliation: University of Vermont, College of Medicine, Burlington, VT, USA.
authors.forename: B L
authors.initials: BL
authors.lastname: Waters
authors.forename: I
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: E F
authors.initials: EF
authors.lastname: Allen
mesh_terms: D051697:Activating Transcription Factor 1; D000595:Amino Acid Sequence; D019677:Artificial Gene Fusion; D001483:Base Sequence; D002648:Child; D002881:Chromosomes, Human, Pair 12; D002885:Chromosomes, Human, Pair 16; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D005260:Female; D006391:Hemangioma / Q000235:genetics*; D034441:Heterogeneous-Nuclear Ribonucleoproteins; D018219:Histiocytoma, Benign Fibrous / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008969:Molecular Sequence Data; D034802:RNA-Binding Protein EWS; D034702:RNA-Binding Protein FUS; D012261:Ribonucleoproteins / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D051697:Activating Transcription Factor 1; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D034441:Heterogeneous-Nuclear Ribonucleoproteins; D034802:RNA-Binding Protein EWS; D034702:RNA-Binding Protein FUS; D012261:Ribonucleoproteins; D014157:Transcription Factors