A synovial sarcoma with a complex t(X;18;5;4) and a break in the ornithine aminotransferase (OAT)L1 cluster on Xp11.2.
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.
Olde Weghuis
D
D
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Stoepker
M E
ME
de Leeuw
B
B
van den Berg
E
E
Suijkerbuijk
R F
RF
Molenaar
W M
WM
de Jong
B
B
Geurts van Kessel
A
A
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*
D009953:Ornithine-Oxo-Acid Transaminase