CAJ | 학술논문

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.
목적 연구결절성근막염적USP6기인중배발생솔,평개기림상응용개치.방법 응용간기형광원위잡교(FISH)방법검측중성갑철고정、석사포매적29례결절성근막염적USP6기인중배정황,병응용역전록취합매련반응(RT-PCR)검측기중15례적MYH9-USP6전록정황.결과 FISH결과현시29례결절성근막염중적24례(83％)휴대USP6기인중배,응용RT-PCR검측기중적15례,발현8례(8/15)휴대MYH9-USP6융합기인,저15례중유11례FISH증실USP6기인중배양성、3례음성화1례신호결실,7례USP6기인중배양성화1례FISH현시신호결실적병례RT-PCR증실휴대MYH9-USP6융합기인.결론 USP6기인중배시결절성근막염적일충상견유전학개변,대우림상병리상보조진단결절성근막염시일충유개치적공구.
Objective 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.