Kekeeva T V, Riazantseva A A, Zavalishina L É, Andreeva Iu Iu, Babenko O V, Zaletaev D V, Frank G A
Mol Biol (Mosk). 2011 Sep-Oct;45(5):840-4.
The t(X;18)(p11;q11) translocation has been shown to be the specific alteration for synovial sarcomas. The translocation leads to production of chimeric protein SYT/SSX by fusion of SYT and SSX genes involved. The expression analysis of SYT/SSX1 and SYT/SSX2 chimeric transcripts was performed in formalin-fixed soft tissue tumour specimens and the diagnostic validity of immunohistochemistry, FISH and RT-PCR methods was compared. The chimeric transcripts were detected in 12 from 16 synovial sarcomas: 7 SYT/SSX1 and 5 SYT/SSX2 fusion variants; by fluorescence hybridization in situ (FISH) the translocation was found in 13 from 16 sarcoma samples. As synovial sarcoma represents a diagnostically challenging group, genetic analysis of translocations and chimeric transcripts is an extremely useful confirmatory diagnostic tool providing higher sensitivity than immunohistochemistry markers do.
已证实t(X;18)(p11;q11)易位是滑膜肉瘤的特异性改变。该易位通过融合相关的SYT和SSX基因导致嵌合蛋白SYT/SSX的产生。在福尔马林固定的软组织肿瘤标本中进行SYT/SSX1和SYT/SSX2嵌合转录本的表达分析，并比较免疫组织化学、荧光原位杂交（FISH）和逆转录聚合酶链反应（RT-PCR）方法的诊断有效性。在16例滑膜肉瘤中的12例检测到嵌合转录本：7例SYT/SSX1和5例SYT/SSX2融合变体；通过荧光原位杂交（FISH）在16例肉瘤样本中的13例发现了易位。由于滑膜肉瘤是一个诊断具有挑战性的群体，对易位和嵌合转录本的基因分析是一种极其有用的确诊诊断工具，其敏感性高于免疫组织化学标志物。
