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作者对1例44岁复发性孤立性纤维性肿瘤(SFTs)/血管外皮细胞瘤的女性患者进行包括全部外显子组和转录组在内的基因测序,检测到转录抑制因子NAB2和转录激活因子STAT6的融合。另外在对其它27个SFTs的转录组测序中发现所有肿瘤均出现NAB2-STAT6基因融合现象。通过RT-PCR和测序技术检测发现51个SFTs中均检测到NAB2-STAT6基因的融合,提示NAB2-STAT6基因融合在SFTs中有较高的发生频率。同时证实了SFTs中存在NAB2-STAT6
The authors sequenced genes in a 44-year-old female with recurrent solitary fibrous tumor (SFTs) / hemangiopericytoma including all exomes and transcriptomes, and detected transcriptional repression factors NAB2 and transcriptional activator STAT6 fusion. In addition, NAB2-STAT6 gene fusion was found in all tumors in the transcriptome sequencing of the other 27 SFTs. The fusion of NAB2-STAT6 gene was detected in 51 SFTs detected by RT-PCR and sequencing technology, suggesting that NAB2-STAT6 gene fusion has a higher frequency of SFTs. It also confirmed the presence of NAB2-STAT6 in SFTs