title: A synovial sarcoma with a complex t(X;18;5;4) and a break in the ornithine aminotransferase (OAT)L1 cluster on Xp11.2.
abstract: The initial cytogenetic analysis of a biphasic synovial sarcoma revealed complex anomalies involving six different chromosomes: 46,Y,t(X;18;5;4)(p11;q11;p13;q12),t(2;5)(q35;q11). After fluorescence in situ hybridization (FISH) analysis, using chromosome X-specific plasmid library and YAC probes, the situation appeared to be even more complex, with an insertion of part of the X chromosome short arm into the der(5)t(5;18). In spite of these complex chromosomal rearrangements, the Xp11 breakpoint could be mapped to within the ornithine aminotransferase (OAT)L1 cluster, very similar to that reported previously for the standard t(X;18)(p11;q11) in synovial sarcomas. These findings suggest common pathogenetic pathways in these cytogenetically different but morphologically similar tumors.
authors.affiliation: Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
authors.forename: D
authors.initials: D
authors.lastname: Olde Weghuis
authors.forename: M E
authors.initials: ME
authors.lastname: Stoepker
authors.forename: B
authors.initials: B
authors.lastname: de Leeuw
authors.forename: E
authors.initials: E
authors.lastname: van den Berg
authors.forename: R F
authors.initials: RF
authors.lastname: Suijkerbuijk
authors.forename: W M
authors.initials: WM
authors.lastname: Molenaar
authors.forename: B
authors.initials: B
authors.lastname: de Jong
authors.forename: A
authors.initials: A
authors.lastname: Geurts van Kessel
mesh_terms: D000328:Adult; D002887:Chromosomes, Human, Pair 18 / Q000648:ultrastructure*; D002889:Chromosomes, Human, Pair 2 / Q000648:ultrastructure; D002894:Chromosomes, Human, Pair 4 / Q000648:ultrastructure*; D002895:Chromosomes, Human, Pair 5 / Q000648:ultrastructure*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009953:Ornithine-Oxo-Acid Transaminase / Q000235:genetics*; D013584:Sarcoma, Synovial / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000235:genetics*; D013710:Tendons; D013848:Thigh; D014178:Translocation, Genetic; D014960:X Chromosome / Q000648:ultrastructure*
chemical_list: D009953:Ornithine-Oxo-Acid Transaminase