TY - JOUR
T1 - Complex t(X;18)(p11.2;q11.2) with a pericentric inversion of the X chromosome in an adolescent boy with synovial sarcoma
AU - Mathew, Susan
AU - Dalton, James
AU - Riedley, Shannon
AU - Spunt, Sheri L.
AU - Hill, D. Ashley
N1 - Funding Information:
Supported by grant CA-20180 and Cancer Center Core Grant CA-21765 from the National Cancer Institute and by the American Lebanese Syrian Associated Charities (ALSAC).
PY - 2002/1/15
Y1 - 2002/1/15
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0037081818&partnerID=8YFLogxK
U2 - 10.1016/S0165-4608(01)00561-1
DO - 10.1016/S0165-4608(01)00561-1
M3 - Article
C2 - 11850075
AN - SCOPUS:0037081818
SN - 0165-4608
VL - 132
SP - 136
EP - 140
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
IS - 2
ER -