Hostein Isabelle, Menard Armelle, Bui Bin Nguyen, Lussan Cathy, Wafflart Jean, Delattre Olivier, Peter Martine, Benhattar Jean, Guillou Louis, Coindre Jean-Michel
Department of Molecular Oncology, Institut Curie, Paris, France.
Diagn Mol Pathol. 2002 Mar;11(1):16-21. doi: 10.1097/00019606-200203000-00004.
The t(X;18) translocation is known to be a useful marker for the diagnosis of synovial sarcoma. In this study, the authors describe a new real-time reverse transcriptase-polymerase chain reaction (RT-PCR) method to detect SYT/SSX fusion transcripts using paraffin-embedded and frozen tumor specimens. A series of 38 soft tissue sarcomas were analyzed. Diagnosis was based on clinical, histologic, and immunohistochemical examination. The fusion transcripts were detected in 16 of 17 synovial sarcoma samples (the 17th sample was not suitable for molecular analysis). No t(X;18)-fusion transcript was PCR-amplified in the 21 nonsynovial sarcoma mesenchymal tumors. Therefore, real-time PCR amplification appears to be a powerful, rapid, specific, and sensitive technique that can be used routinely to diagnose the synovial sarcoma t(X;18) translocation. In addition, the t(X;18) can be detected not only on frozen but also on paraffin-embedded tumor samples.
已知t(X;18)易位是滑膜肉瘤诊断的一个有用标志物。在本研究中，作者描述了一种新的实时逆转录聚合酶链反应（RT-PCR）方法，用于使用石蜡包埋和冷冻肿瘤标本检测SYT/SSX融合转录本。分析了一系列38例软组织肉瘤。诊断基于临床、组织学和免疫组化检查。在17例滑膜肉瘤样本中的16例检测到融合转录本（第17个样本不适合进行分子分析）。在21例非滑膜肉瘤间叶性肿瘤中未通过PCR扩增出t(X;18)融合转录本。因此，实时PCR扩增似乎是一种强大、快速、特异且灵敏的技术，可常规用于诊断滑膜肉瘤的t(X;18)易位。此外，不仅在冷冻肿瘤样本上，而且在石蜡包埋的肿瘤样本上都能检测到t(X;18)。
