Terry Jefferson, Barry Todd S, Horsman Douglas E, Hsu Forrest D, Gown Allen M, Huntsman David G, Nielsen Torsten O
Genetic Pathology Evaluation Centre, British Columbia Cancer Agency, Vancouver, British Columbia, Canada.
Diagn Mol Pathol. 2005 Jun;14(2):77-82. doi: 10.1097/01.pas.0000155021.80213.c9.
Synovial sarcomas (SSs) account for 5% of soft tissue tumors and carry a balanced translocation t(X;18)(p11.2;q11.2), detectable in over 90% of cases. This translocation brings together portions of two genes: SYT and SSX. Detecting interruption of the SYT gene on chromosome 18 would be useful as a diagnostic tool. We describe a scoring method to detect disruption of SYT with breakapart probe fluorescence in situ hybridization (FISH) and the application of this method for identification of SS within a sarcoma tissue microarray. After optimization, SYT disruption was identified in 22 of 23 (96%) of known SS tumor samples but was not in 23 of 23 (100%) of non-SS sarcoma samples. Ten of 11 (91%) blinded test SS tumor samples were also correctly identified. For comparison, commercially available FISH and chromogenic in situ hybridization (CISH) probes were tested. The commercial FISH probes identified SYT disruption in 81% of the SS tumor samples but in none of the non-SS samples. The CISH probes produced signals too weak to interpret. The use of breakapart FISH probes is a relatively quick procedure for detection of synovial sarcoma translocations and can be applied to archival specimens in tissue microarrays.
滑膜肉瘤（SSs）占软组织肿瘤的5%，具有平衡易位t(X;18)(p11.2;q11.2)，在90%以上的病例中可检测到。这种易位将两个基因的部分区域拼接在一起：SYT和SSX。检测18号染色体上SYT基因的中断作为一种诊断工具将很有用。我们描述了一种用分离探针荧光原位杂交（FISH）检测SYT中断的评分方法，以及该方法在肉瘤组织微阵列中识别SS的应用。经过优化，在23个已知的SS肿瘤样本中的22个（96%）中检测到SYT中断，但在23个非SS肉瘤样本中均未检测到（100%）。11个盲法检测的SS肿瘤样本中的10个（91%）也被正确识别。为作比较，对市售的FISH和显色原位杂交（CISH）探针进行了测试。市售FISH探针在81%的SS肿瘤样本中检测到SYT中断，但在非SS样本中均未检测到。CISH探针产生的信号太弱无法解读。使用分离FISH探针是检测滑膜肉瘤易位的相对快速的方法，可应用于组织微阵列中的存档标本。
