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自动化SureFISH(达科Omnis)在肌肉骨骼易位相关肉瘤诊断中的诊断效用

Diagnostic utility of automated SureFISH (Dako Omnis) in the diagnosis of musculoskeletal translocation-related sarcomas.

作者信息

Sugita Shintaro, Aoyama Tomoyuki, Ito Yoshimasa, Asanuma Hiroko, Sugawara Taro, Segawa Keiko, Ito Yumika, Kikuchi Noriaki, Tsujiwaki Mitsuhiro, Fujita Hiromi, Ono Yusuke, Hasegawa Tadashi

机构信息

Department of Surgical Pathology, Sapporo Medical University, School of Medicine, Sapporo, Japan.

Diagnostic and Genomics Group Japan, Agilent Technologies Japan, Ltd., Tokyo, Japan.

出版信息

Pathol Int. 2017 Oct;67(10):510-513. doi: 10.1111/pin.12562. Epub 2017 Jul 22.

Abstract

Fluorescence in situ hybridization (FISH) is an essential tool for genetic diagnosis in daily pathological work. Almost full automation of FISH can be achieved with the recently released automated SureFISH platform (Dako Omnis, Agilent Technologies, Santa Clara, CA, USA). Its utility has been reported in HER2 amplification of breast and gastric carcinoma and ALK-rearranged lung cancer. Here, we examined the utility of automated SureFISH for the identification of rearrangement signals in translocation-related sarcomas (TRSs), including 11 EWSR1-rearranged and 10 synovial sarcoma cases, compared with non-automated conventional FISH using the same specimens. The percentages of EWSR1 or SS18 split signals were higher in automated SureFISH than in conventional FISH in 13 of the 21 cases. On the other hand, 8 of the 21 cases showed the same or lower percentage of split signals in automated SureFISH. Both FISH approaches detected EWSR1 and SS18 split signals in more than 10% of tumor cells in all cases. The strongest advantage of automated SureFISH is its ability to reduce running time without sacrificing quality. Other advantages include improved signal sharpness with oligo probes and reduced ecological toxicity by avoiding formamide use. Automated SureFISH is an excellent tool for the genetic diagnosis of TRSs and contributes to their rapid definitive diagnosis.

摘要

荧光原位杂交(FISH)是日常病理工作中基因诊断的重要工具。使用最近发布的自动化SureFISH平台(美国加利福尼亚州圣克拉拉市安捷伦科技公司的达科Omnis)几乎可以实现FISH的完全自动化。其在乳腺癌和胃癌的HER2扩增以及ALK重排的肺癌中的应用已有报道。在此,我们检测了自动化SureFISH在识别易位相关肉瘤(TRS)重排信号方面的效用,包括11例EWSR1重排和10例滑膜肉瘤病例,并与使用相同标本的非自动化传统FISH进行了比较。在21例病例中的13例中,自动化SureFISH检测到的EWSR1或SS18分裂信号百分比高于传统FISH。另一方面,21例病例中有8例在自动化SureFISH中显示出相同或更低的分裂信号百分比。两种FISH方法在所有病例中均在超过10%的肿瘤细胞中检测到EWSR1和SS18分裂信号。自动化SureFISH最显著的优势在于其能够在不牺牲质量的情况下减少运行时间。其他优势包括使用寡核苷酸探针提高信号清晰度以及通过避免使用甲酰胺降低生态毒性。自动化SureFISH是TRS基因诊断的优秀工具,有助于其快速明确诊断。

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