Detection of SYT-SSX1/2 fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR) is a valuable diagnostic tool in synovial sarcoma
F. Willeke et al., Detection of SYT-SSX1/2 fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR) is a valuable diagnostic tool in synovial sarcoma, EUR J CANC, 34(13), 1998, pp. 2087-2093
Cytogenetically, most synovial sarcomas are characterised by a specific chr
omosomal translocation [(X;18)(p11.2;q11.2)], which results in the generati
on of fusion transcripts comprising SYT (18q11) and either SSX1 or SSX2 (Xp
11) sequences. By using a sensitive reverse transcriptase-polymerase chain
reaction (RT-PCR) protocol, specific SYT-SSX1/2 fusion transcripts were det
ected in 10 histopathologically confirmed synovial sarcomas. Control tumour
s with morphological spindle cell patterns mimicking monophasic synovial sa
rcoma tested negative (18/19) in the RT-PCR protocol, with the exception of
one spindle cell sarcoma originally classified as a fibrosarcoma. Furtherm
ore, the established RT-PCR protocol was used to evaluate the feasibility o
f SYT-SSX1/2 fusion transcript detection for minimal residual disease analy
sis. Analyses of surgical margins revealed a fusion transcript in two of fo
ur operations for synovial sarcoma analysed, one of which was diagnosed wit
h tumour free margins by conventional histopathology. These data suggest th
at the RT-PCR amplification of SYT-SSX1/2 fusion transcripts is a valuable
tool in the differentiation of synovial sarcomas, especially in cases of eq
uivocal morphology. Additionally, the RT-PCR approach may be used for the d
etection of residual tumour cells in synovial sarcoma patients. (C) 1998 El
sevier Science Ltd. All rights reserved.