Complex t(X;18)(p11.2;q11.2) with a pericentric inversion of the X chromosome in an adolescent boy with synovial sarcoma.
Synovial sarcoma is the most common nonrhabdomyosarcomatous soft-tissue sarcoma in children and young adults. It is characterized by the common t(X;18)(p11.2;q11.2) that results in the fusion of SYT on chromosome 18 to one of two closely related and adjacent genes on the X chromosome, SSX1 or SSX2. Here we describe a poorly differentiated, monophasic synovial sarcoma in a 17-year-old adolescent boy. Hyperdiploidy, a t(X;18)(q13;q11), and other structural abnormalities were detected by conventional cytogenetic analysis. Fluorescence in situ hybridization with the PAC probe RP3-519N18, which is specific for the Xp11 region, resulted in a signal on the der(Xq), a finding consistent with a pericentric inversion of the X chromosome that resulted in a t(X;18)(p11.2;q11.2)inv(X)(p11.2q13). Real-time polymerase chain reaction using primer sets specific for SYT-SSX1 and SYT-SSX2 confirmed the presence of an SYT-SSX1 fusion transcript. Our finding of this unique and complex translocation in synovial sarcoma demonstrates the utility of molecular methods in confirming the diagnosis of synovial sarcoma.
Mathew
Susan
S
Department of Pathology, St. Jude Children's Research Hospital, 332 North Lauderdale, Memphis, TN 38105-2794, USA. susan.mathew@stjude.org
Dalton
James
J
Riedley
Shannon
S
Spunt
Sheri L
SL
Hill
D Ashley
DA
D000293:Adolescent; D000328:Adult; D007446:Chromosome Inversion; D002887:Chromosomes, Human, Pair 18; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D013584:Sarcoma, Synovial / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome