摘要目的 研究结节性筋膜炎的USP6基因重排发生率,评价其临床应用价值.方法 应用间期荧光原位杂交(FISH)方法检测中性甲醛固定、石蜡包埋的29例结节性筋膜炎的USP6基因重排情况,并应用逆转录聚合酶链反应(RT-PCR)检测其中15例的MYH9-USP6转录情况.结果 FISH结果显示29例结节性筋膜炎中的24例(83％)携带USP6基因重排,应用RT-PCR检测其中的15例,发现8例(8/15)携带MYH9-USP6融合基因,这15例中有11例FISH证实USP6基因重排阳性、3例阴性和1例信号缺失,7例USP6基因重排阳性和1例FISH显示信号缺失的病例RT-PCR证实携带MYH9-USP6融合基因.结论 USP6基因重排是结节性筋膜炎的一种常见遗传学改变,对于临床病理上辅助诊断结节性筋膜炎是一种有价值的工具.

abstractsObjective To investigate the frequency of USP6 gene rearrangement in nodular fasciitis (NF) and to evaluate its clinical application.Methods Twenty nine cases of previously diagnosed NF were screened for the presence of the USP6 gene rearrangement by interphase fluorescence-in-situ hybridization (FISH) on formalin-fixed paraffin-embedded tissue.Fifteen of these cases,which had available tissue,were also analysed for MYH9-USP6 fusion transcripts by reverse transcription-polymerase chain reaction (RT-PCR).Results Twenty four of the 29 cases (83％) were positive for the USP6 gene rearrangement by interphase FISH.The 15 cases with RT-PCR showed the following results:11 positive,one deletion and three negative for USP6 gene rearrangement.Of these 15 cases,eight (8/15) showed MYH9-USP6 fusion transcript by RT-PCR.Of these eight cases,seven were positive for USP6 gene rearrangement and one showed USP6 deletion by FISH.Conclusions USP6 gene rearrangement is a recurrent genetic event in NF.It is a valuable ancillary tool for the pathological diagnosis of these lesions.